BRCA1

Summary

Gene Symbol: BRCA1
Description: BRCA1, DNA repair associated
Alias: BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53, breast cancer type 1 susceptibility protein, BRCA1/BRCA2-containing complex, subunit 1, Fanconi anemia, complementation group S, RING finger protein 53, breast and ovarian cancer susceptibility protein 1, breast cancer 1, early onset, early onset breast cancer 1, protein phosphatase 1, regulatory subunit 53
Species: human

Top Publications

  1. ncbi Sequence-specific transcriptional corepressor function for BRCA1 through a novel zinc finger protein, ZBRK1
    L Zheng
    Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center at San Antonio, 78245, USA
    Mol Cell 6:757-68. 2000
  2. pmc Control of biochemical reactions through supramolecular RING domain self-assembly
    Alex Kentsis
    Structural Biology Program, Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York University, New York 10029, USA
    Proc Natl Acad Sci U S A 99:15404-9. 2002
  3. pmc Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair
    Junran Zhang
    Department of Radiation Oncology, Massachusetts General Hospital Harvard Medical School, 149 13th Street, Charlestown, MA 02129, USA
    Mol Cell Biol 24:708-18. 2004
  4. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
  5. ncbi Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer
    Alison M Hosey
    Centre for Cancer Research and Cell Biology, Queen s University Belfast, 97 Lisburn Rd, Belfast, Northern Ireland, BT9 7BL, UK
    J Natl Cancer Inst 99:1683-94. 2007
  6. pmc Canonical Wnt signaling regulates Slug activity and links epithelial-mesenchymal transition with epigenetic Breast Cancer 1, Early Onset (BRCA1) repression
    Zhao Qiu Wu
    Division of Molecular Medicine and Genetics, Department of Internal Medicine, Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA
    Proc Natl Acad Sci U S A 109:16654-9. 2012
  7. doi Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial
    M William Audeh
    Samuel Oschin Cancer Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Lancet 376:245-51. 2010
  8. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
  9. doi Cell cycle-dependent complex formation of BRCA1.CtIP.MRN is important for DNA double-strand break repair
    Longchuan Chen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    J Biol Chem 283:7713-20. 2008
  10. pmc Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
    PLoS Genet 9:e1003212. 2013

Research Grants

  1. MOLECULAR EPIDEMIOLOGY OF BRCA1 RELATED BREAST NEOPLASIA
    Anne Blackwood Chirchir; Fiscal Year: 2002
  2. BRCA 1 FUNCTION USING AN INDUCIBLE TRANSGENE
    EDWARD GUNTHER; Fiscal Year: 2003
  3. Structural and Functional Characterization of BRCA1
    Rachel Klevit; Fiscal Year: 2007
  4. Regulation of BRCA1 Function by Protein Phosphatase 1
    Lih Ching Hsu; Fiscal Year: 2009
  5. Centrosomes and BRCA1
    Jeffrey D Parvin; Fiscal Year: 2010
  6. Obesity susceptibility loci and breast cancer risk in BRCA1 and BRCA2 mutation ca
    JONATHAN ANDREW MITCHELL; Fiscal Year: 2013
  7. Wei Zheng; Fiscal Year: 2015
  8. Role of the Mullerian Tract in Ovarian Cancer Development
    Louis Dubeau; Fiscal Year: 2013
  9. PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERS
    Gail Tomlinson; Fiscal Year: 2002
  10. Eliot M Rosen; Fiscal Year: 2014

Detail Information

Publications466 found, 100 shown here

  1. ncbi Sequence-specific transcriptional corepressor function for BRCA1 through a novel zinc finger protein, ZBRK1
    L Zheng
    Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center at San Antonio, 78245, USA
    Mol Cell 6:757-68. 2000
    b>BRCA1 has been implicated in the transcriptional regulation of DNA damage-inducible genes that function in cell cycle arrest...
  2. pmc Control of biochemical reactions through supramolecular RING domain self-assembly
    Alex Kentsis
    Structural Biology Program, Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York University, New York 10029, USA
    Proc Natl Acad Sci U S A 99:15404-9. 2002
    ..including promyelocytic leukemia protein, KAP-1TIF1beta, Z, Mel18, breast cancer susceptibility gene product 1 (BRCA1), and BRCA1-associated RING domain (BARD1), self-assemble into supramolecular structures in vitro that resemble ..
  3. pmc Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair
    Junran Zhang
    Department of Radiation Oncology, Massachusetts General Hospital Harvard Medical School, 149 13th Street, Charlestown, MA 02129, USA
    Mol Cell Biol 24:708-18. 2004
    The pathway determining malignant cellular transformation, which depends upon mutation of the BRCA1 tumor suppressor gene, is poorly defined...
  4. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
    Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk prediction provided by the counselor requires reliable estimates of the mutation penetrance...
  5. ncbi Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer
    Alison M Hosey
    Centre for Cancer Research and Cell Biology, Queen s University Belfast, 97 Lisburn Rd, Belfast, Northern Ireland, BT9 7BL, UK
    J Natl Cancer Inst 99:1683-94. 2007
    b>BRCA1-mutant breast tumors are typically estrogen receptor alpha (ER alpha) negative, whereas most sporadic tumors express wild-type BRCA1 and are ER alpha positive...
  6. pmc Canonical Wnt signaling regulates Slug activity and links epithelial-mesenchymal transition with epigenetic Breast Cancer 1, Early Onset (BRCA1) repression
    Zhao Qiu Wu
    Division of Molecular Medicine and Genetics, Department of Internal Medicine, Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA
    Proc Natl Acad Sci U S A 109:16654-9. 2012
    ..Wnt signaling, increased Slug levels, and reduced expression of the tumor suppressor Breast Cancer 1, Early Onset (BRCA1), further studies demonstrate that Slug-as well as Snail-directly represses BRCA1 expression by recruiting the ..
  7. doi Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial
    M William Audeh
    Samuel Oschin Cancer Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Lancet 376:245-51. 2010
    ..We aimed to assess the efficacy and safety of olaparib for treatment of advanced ovarian cancer in patients with BRCA1 or BRCA2 mutations.
  8. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
    Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context...
  9. doi Cell cycle-dependent complex formation of BRCA1.CtIP.MRN is important for DNA double-strand break repair
    Longchuan Chen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    J Biol Chem 283:7713-20. 2008
    b>BRCA1 plays an important role in the homologous recombination (HR)-mediated DNA double-strand break (DSB) repair, but the mechanism is not clear...
  10. pmc Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
    PLoS Genet 9:e1003212. 2013
    b>BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants...
  11. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers...
  12. ncbi Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression
    Xiaowei Chen
    Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Hum Mutat 27:427-35. 2006
    Germline mutations in the human breast cancer susceptibility genes BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancer...
  13. pmc Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
    Hum Mol Genet 20:3304-21. 2011
    ..identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is ..
  14. pmc Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
    Antonis C Antoniou
    Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Cancer Res 70:9742-54. 2010
    ..polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers...
  15. doi BRCA1-IRIS overexpression promotes cisplatin resistance in ovarian cancer cells
    Kerri L Chock
    Department of Pathology, John A Burns School of Medicine, University of Hawaii and Cancer Research Center of Hawaii, Honolulu, Hawaii 96813, USA
    Cancer Res 70:8782-91. 2010
    Evasion of apoptosis plays a key role in cancer development, drug resistance, and recurrence. The BRCA1 locus product protein BRCA1-IRIS is overexpressed in several cisplatin-resistant ovarian cancer cell lines, but its relationship to ..
  16. doi Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    Peter C Fong
    Drug Development Unit, Royal Marsden National Health Service Foundation Trust and the Institute of Cancer Research, Sutton, Surrey, United Kingdom
    N Engl J Med 361:123-34. 2009
    ..strategy for the treatment of cancers with specific DNA-repair defects, including those arising in carriers of a BRCA1 or BRCA2 mutation...
  17. pmc Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer
    Da Yang
    Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA
    JAMA 306:1557-65. 2011
    Attempts to determine the clinical significance of BRCA1/2 mutations in ovarian cancer have produced conflicting results.
  18. ncbi Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    William D Foulkes
    Program in Cancer Genetics, Department of Oncology and Human Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
    J Natl Cancer Inst 95:1482-5. 2003
    ..e., ER/erbB-2-negative tumors). The ER/erbB-2- negative phenotype is also found in breast cancers occurring in BRCA1 mutation carriers (i.e., BRCA1-related breast cancers)...
  19. ncbi Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups
    Esther M John
    Northern California Cancer Center, Fremont, CA 94538 2334, USA
    JAMA 298:2869-76. 2007
    Information on the prevalence of pathogenic BRCA1 mutation carriers in racial/ethnic minority populations is limited.
  20. pmc Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes
    Roger A Greenberg
    Department of Genetics, Harvard Medical School and the Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
    Genes Dev 20:34-46. 2006
    The BRCA1 gene product and its stoichiometric binding partner, BARD1, play a vital role in the cellular response to DNA damage. However, how they acquire specific biochemical functions after DNA damage is poorly understood...
  21. doi A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients
    David J Sanz
    Grupo de Genetica del Cancer, Instituto de Biologia y Genetica Molecular, Consejo Superior de Investigaciones Cientificas Universidad de Valladolid, Valladolid, Spain
    Clin Cancer Res 16:1957-67. 2010
    Most BRCA1/2 mutations are of unknown clinical relevance. An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process...
  22. ncbi The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified
    Wen Feng Li
    Department of Oncology, Breast Cancer Institute, Cancer Hospital Cancer Institute, Institutes of Biomedical Science, Shanghai Medical College, Fudan University, 270 Dong An Road, Shanghai 200032, PR China
    Breast Cancer Res Treat 110:99-109. 2008
    To have an overview of the role of BRCA1 and BRCA2 genes among Chinese high-risk breast cancer patients, we analyzed 489 such high-risk breast cancer patients from four breast disease clinical centers in China, by using PCR-DHPLC or SSCP-..
  23. pmc BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases
    Nancy Uhrhammer
    Laboratoire Diagnostic Génétique et Moléculaire, Centre Jean Perrin, 58 rue Montalembert, 63011 Clermont Ferrand, France
    Int J Med Sci 5:197-202. 2008
    ..In Western populations, 5 to 10 % of breast cancer cases can be attributed to major genetic factors such as BRCA1 and BRCA2, while this attribution is not yet well defined among Africans...
  24. pmc BRCA1 tumours correlate with a HIF-1alpha phenotype and have a poor prognosis through modulation of hydroxylase enzyme profile expression
    M Yan
    Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002, Australia
    Br J Cancer 101:1168-74. 2009
    There are limited data regarding the hypoxia pathway in familial breast cancers. We therefore performed a study of hypoxic factors in BRCA1, BRCA2 and BRCAX breast cancers.
  25. pmc BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
    L Robertson
    Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Br J Cancer 106:1234-8. 2012
    Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation carriers. Recently, it was proposed that all individuals below 50 years of age with TN breast cancer should be offered BRCA testing...
  26. pmc Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
    Marc Tischkowitz
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Eur J Hum Genet 16:820-32. 2008
    A number of germ-line mutations in the BRCA1 gene confer susceptibility to breast and ovarian cancer...
  27. pmc A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 42:885-92. 2010
    Germline BRCA1 mutations predispose to breast cancer...
  28. ncbi Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    James D Fackenthal
    Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Box MC2115, 5841 S Maryland Avenue, Chicago, Illinois 60615, USA
    Nat Rev Cancer 7:937-48. 2007
    Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development...
  29. pmc PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2
    Fan Zhang
    Division of Experimental Hematology and Cancer Biology, Cincinnati Children s Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Mol Cancer Res 7:1110-8. 2009
    b>BRCA1 and BRCA2 are prominently associated with inherited breast and ovarian cancer. The encoded proteins function in DNA damage responses, but no functional link between BRCA1 and BRCA2 has been established...
  30. pmc Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
    Marcelo A Carvalho
    Risk Assessment, Detection, and Intervention Program, H Lee Moffitt Cancer Center, University of South Florida College of Medicine, 12902 Magnolia Drive, Tampa, FL 33612, USA
    Cancer Res 67:1494-501. 2007
    Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear...
  31. ncbi High frequency of HIF-1alpha overexpression in BRCA1 related breast cancer
    Petra van der Groep
    Department of Pathology, University Medical Center, 3508 GA, Utrecht, The Netherlands
    Breast Cancer Res Treat 111:475-80. 2008
    ..Little is known on the role of HIF-1alpha in hereditary breast carcinogenesis. A recent study suggests a role for BRCA1 in HIF-1alpha regulation. We therefore examined the expression of HIF-1alpha in BRCA1 related breast cancers...
  32. pmc BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells
    P Tassone
    Department of Experimental and Clincal Medicine, Magna Graecia University, Italy
    Br J Cancer 88:1285-91. 2003
    Germline mutations of the tumour suppressor gene BRCA1 are involved in the predisposition and development of breast cancer and account for 20-45% of all hereditary cases...
  33. pmc BRCA1 is required for postreplication repair after UV-induced DNA damage
    Shailja Pathania
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Mol Cell 44:235-51. 2011
    b>BRCA1 contributes to the response to UV irradiation. Utilizing its BRCT motifs, it is recruited during S/G2 to UV-damaged sites in a DNA replication-dependent but nucleotide excision repair (NER)-independent manner...
  34. ncbi RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins
    Niels Mailand
    Institute of Cancer Biology and Centre for Genotoxic Stress Research, Danish Cancer Society, Strandboulevarden 49, DK 2100, Copenhagen, Denmark
    Cell 131:887-900. 2007
    ..This is accompanied by an increase in DSB-associated ubiquitylations and followed by accumulation of 53BP1 and BRCA1 repair proteins...
  35. pmc Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression
    Rafael Rosell
    Catalan Institute of Oncology, Badalona, Spain
    PLoS ONE 4:e5133. 2009
    ..Experimental evidence suggests that BRCA1 overexpression enhances sensitivity to docetaxel and resistance to cisplatin...
  36. pmc Depletion of BRCA1 impairs differentiation but enhances proliferation of mammary epithelial cells
    Saori Furuta
    Department of Biological Chemistry, College of Medicine, University of California, Irvine, CA 92697, USA
    Proc Natl Acad Sci U S A 102:9176-81. 2005
    Cumulative evidence indicates that breast cancer-associated gene 1 (BRCA1) participates in DNA damage repair and cell-cycle checkpoint control, serving as a tumor susceptibility gene to maintain the global genomic stability...
  37. pmc Negative Regulation of AKT Activation by BRCA1
    Tao Xiang
    Department of Radiation Oncology, Washington University School of Medicine, St Louis, Missouri 63108, USA
    Cancer Res 68:10040-4. 2008
    The breast cancer susceptibility gene 1 (BRCA1) plays a key role in mammary tumorigenesis. However, the reasons why silencing the Brca1 gene leads to tumorigenesis are not clearly understood...
  38. pmc Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer
    Tamara Hansmann
    Institute of Human Genetics, Julius Maximilians University, 97074 Wurzburg, Germany
    Hum Mol Genet 21:4669-79. 2012
    Genetic defects in breast cancer (BC) susceptibility genes, most importantly BRCA1 and BRCA2, account for ~40% of hereditary BC and ovarian cancer (OC)...
  39. pmc BRCA1 loss activates cathepsin L-mediated degradation of 53BP1 in breast cancer cells
    David A Grotsky
    Department of Biochemistry and Molecular Biology, St Louis University School of Medicine, St Louis, MO 63104, USA
    J Cell Biol 200:187-202. 2013
    Loss of 53BP1 rescues BRCA1 deficiency and is associated with BRCA1-deficient and triple-negative breast cancers (TNBC) and with resistance to genotoxic drugs...
  40. pmc CBP/p300 interact with and function as transcriptional coactivators of BRCA1
    G M Pao
    Laboratory of Genetics, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 97:1020-5. 2000
    b>BRCA1 is a breast and ovarian cancer-specific tumor suppressor, with properties of a transcription factor involved in DNA repair. We previously have shown the transactivation of heterologous promoters by the carboxyl terminus of BRCA1...
  41. ncbi Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase
    Angus Chen
    Derald H Ruttenberg Cancer Center, The Mount Sinai School of Medicine, New York, New York 10029 6574, USA
    J Biol Chem 277:22085-92. 2002
    The RING finger of BRCA1 confers ubiquitin ligase activity that is markedly enhanced when complexed with another RING-containing protein, BARD1, and is required for the function of this tumor suppressor protein in protecting genomic ..
  42. ncbi S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51
    Toshiyasu Taniguchi
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA
    Blood 100:2414-20. 2002
    ..pathway, leading to monoubiquitination of the downstream FANCD2 protein and targeting to nuclear foci containing BRCA1. In the current study, we demonstrate that FANCD2 also undergoes monoubiquitination during S phase of the cell ..
  43. pmc BRCA1/BARD1 inhibition of mRNA 3' processing involves targeted degradation of RNA polymerase II
    Frida E Kleiman
    Department of Biological Sciences, Columbia University, New York, New York 10027, USA
    Genes Dev 19:1227-37. 2005
    Mammalian cells exhibit a complex response to DNA damage. The tumor suppressor BRCA1 and associated protein BARD1 are thought to play an important role in this response, and our previous work demonstrated that this includes transient ..
  44. ncbi Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma
    Ewa Joanna Majdak
    Department of Gynecology, Medical University of Gdansk, Poland
    Cancer 104:1004-12. 2005
    The clinical relevance of BRCA1/2 alterations in ovarian carcinoma patients is debatable...
  45. ncbi BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase
    Karen Moreau
    CNRS UMR 5201, Laboratoire de Genetique Moleculaire, Signalisation et Cancer, Faculté deMédecine Rockefeller, 69373 Lyon Cedex 08, France
    J Biol Chem 281:3172-81. 2006
    Germ line alterations in BRCA1 (breast cancer susceptibility gene 1) are associated with an increased susceptibility to breast and ovarian cancer...
  46. pmc BRCA1 promoter methylation is associated with increased mortality among women with breast cancer
    Xinran Xu
    Department of Community and Preventive Medicine, Mount Sinai School of Medicine, P O Box 1043, One Gustave L Levy Place, New York, NY 10029, USA
    Breast Cancer Res Treat 115:397-404. 2009
    Promoter-CpG island hypermethylation has been proposed as an alternative mechanism to inactivate BRCA1 in the breast where somatic mutations of BRCA1 are rare...
  47. pmc Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination
    Derek J R Ransburgh
    Department of Biomedical Informatics, Ohio State University, Columbus, Ohio 43210, USA
    Cancer Res 70:988-95. 2010
    Effects of breast cancer-associated gene 1 (BRCA1) missense mutations on the function of BRCA1 protein in DNA recombination have been little studied...
  48. doi Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation
    M H Lee
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 31:116-27. 2012
    Expression of the breast cancer-associated gene 1 (BRCA1) in sporadic breast cancers is usually reduced, yet the underlying mechanisms remains elusive...
  49. pmc BRCAness profile of sporadic ovarian cancer predicts disease recurrence
    Weiya Z Wysham
    Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon, United States of America
    PLoS ONE 7:e30042. 2012
    ..HR) are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined...
  50. pmc Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2
    John R McLaughlin
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
    J Natl Cancer Inst 105:141-8. 2013
    Studies have suggested that the 5-year survival of women with ovarian cancer and a BRCA1 or BRCA2 mutation is better than expected...
  51. pmc VEGF, HIF-1α expression and MVD as an angiogenic network in familial breast cancer
    Concetta Saponaro
    Functional Biomorphology Laboratory, National Cancer Research Centre, Istituto Tumori Giovanni Paolo II, Bari, Italy
    PLoS ONE 8:e53070. 2013
    ..It is known that there is an interaction between HIF-1α and BRCA1 carrier cancers, but little has been reported about angiogenesis in BRCA1-2 carrier and BRCAX breast cancers...
  52. pmc Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer
    Da Li
    Department of Obstetrics and Gynecology, Shengjing Hospital, China Medical University, NO, 36, Sanhao Street, Heping District, Shenyang 110004, China
    J Exp Clin Cancer Res 32:102. 2013
    Both BRCA1 and epidermal growth factor receptor (EGFR) play a critical role in ovarian cancer progression. However, the crosstalk between BRCA1 and EGFR signaling pathways in ovarian cancer remains largely unknown.
  53. ncbi Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling
    E Beristain
    Laboratorio de Genetica Molecular, Hospital de Cruces, Pza de Cruces s n, 48903 Barakaldo, Bizkaia, Spain
    Breast Cancer Res Treat 106:255-62. 2007
    The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations...
  54. ncbi BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations
    Sei Hyun Ahn
    Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, South Korea
    Cancer Lett 245:90-5. 2007
    We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations...
  55. ncbi BRCA1-IRIS activates cyclin D1 expression in breast cancer cells by downregulating the JNK phosphatase DUSP3/VHR
    Lu Hao
    Department of Pharmacology and Experimental Therapeutics, Stritch School of Medicine and Cardinal Bernardin Cancer Center, Loyola University Chicago, Maywood, IL 60153, USA
    Int J Cancer 121:39-46. 2007
    ..We previously showed that in breast cancer cells, overexpression of BRCA1-IRIS induces Cyclin D1 overexpression and increases cell proliferation...
  56. ncbi Promoter hypermethylation of TMS1, BRCA1, ERalpha and PRB in serum and tumor DNA of invasive ductal breast carcinoma patients
    Sameer Mirza
    Department of Biochemistry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
    Life Sci 81:280-7. 2007
    ..To test this hypothesis methylation status of tumor suppressor genes TMS1, BRCA1, ERalpha and PRB was determined in invasive ductal carcinoma of breast and paired serum DNA...
  57. ncbi BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model
    Kristen J Vogel
    Center for Medical Genetics, Evanston Northwestern Healthcare, Evanston, IL, USA
    J Clin Oncol 25:4635-41. 2007
    The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations...
  58. pmc Decreased BRCA1 confers tamoxifen resistance in breast cancer cells by altering estrogen receptor-coregulator interactions
    J Wen
    Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA 22908, USA
    Oncogene 28:575-86. 2009
    The breast cancer susceptibility gene 1 (BRCA1) is mutated in approximately 50% of hereditary breast cancers, and its expression is decreased in 30-40% of sporadic breast cancers, suggesting a general role in breast cancer development...
  59. doi Preventing future cancers by testing women with ovarian cancer for BRCA mutations
    Janice S Kwon
    Division of Gynecologic Oncology, University of British Columbia, British Columbia, Canada
    J Clin Oncol 28:675-82. 2010
    ..We estimated the net health benefits and cost-effectiveness of different criteria for BRCA mutation testing in women with ovarian cancer, and the downstream benefits for their first-degree relatives (FDRs)...
  60. pmc Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
    Logan C Walker
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 31:E1484-505. 2010
    ..classification approaches and in vitro assays are useful for the classification of exonic sequence variants in BRCA1 and BRCA2, but these currently rely on the assumption that changes in protein function are the major biological ..
  61. doi Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes
    Mireia Menendez
    Hereditary Cancer Program, Genetic Diagnosis Unit, Laboratori de Recerca Translacional, Institut Catala d Oncologia, Hospital Duran i Reynals Bellvitge Biomedical Research Institute, L Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IdiBGi, Gran Via 199 203, Girona 08908, Spain
    Breast Cancer Res Treat 132:979-92. 2012
    Comprehensive genetic testing of the breast cancer susceptibility genes BRCA1 and BRCA2 identified approximately 16% of variants of unknown significance (VUS), a significant proportion of which could affect the correct splicing of the ..
  62. doi Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
    Mads Thomassen
    Department of Clinical Genetics, Odense University Hospital, Soenderboulevard 29, 5000 Odense C, Denmark
    Breast Cancer Res Treat 132:1009-23. 2012
    Mutations in BRCA1 and BRCA2 predispose carriers to early onset breast and ovarian cancer. A common problem in clinical genetic testing is interpretation of variants with unknown clinical significance...
  63. pmc Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155
    Suhwan Chang
    Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick, Frederick, Maryland, USA
    Nat Med 17:1275-82. 2011
    b>BRCA1, a well-known tumor suppressor with multiple interacting partners, is predicted to have diverse biological functions. However, so far its only well-established role is in the repair of damaged DNA and cell cycle regulation...
  64. ncbi BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    Fiona Lalloo
    Department of Clinical, Genetics and Academic Unit of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom
    Eur J Cancer 42:1143-50. 2006
    Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer...
  65. pmc The prevalence of BRCA1 mutations among young women with triple-negative breast cancer
    S R Young
    Women s College Research Institute, Department of Public Health, The University of Toronto, Toronto, Canada
    BMC Cancer 9:86. 2009
    Molecular screening for BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer...
  66. doi Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups
    B G Haffty
    Department of Radiation Oncology, UMDNJ RWJMS and Cancer Institute of New Jersey, New Brunswick, NJ 08901, USA
    Ann Oncol 20:1653-9. 2009
    ..cancer between Caucasian (CA), African-American (AA) and Korean (KO) women, little is known about differences in BRCA1/2 mutations in these populations...
  67. doi Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
    Nancie Petrucelli
    Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan, USA
    Genet Med 12:245-59. 2010
    Hereditary breast and ovarian cancer due to mutations in the BRCA1 and BRCA2 genes is the most common cause of hereditary forms of both breast and ovarian cancer...
  68. pmc Pathology of hereditary breast cancer
    Petra van der Groep
    Department of Pathology, University Medical Center Utrecht, P O Box 85500, 3508 GA, Utrecht, The Netherlands
    Cell Oncol (Dordr) 34:71-88. 2011
    ..Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers...
  69. pmc Mutations in the BRCT binding site of BRCA1 result in hyper-recombination
    Seth M Dever
    Department of Radiation Oncology, Virginia Commonwealth University, Richmond, 23298, USA
    Aging (Albany NY) 3:515-32. 2011
    We introduced a K1702M mutation in the BRCA1 BRCT domain known to prevent the binding of proteins harboring pS-X-X-F motifs such as Abraxas-RAP80, BRIP1, and CtIP...
  70. pmc NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control
    Bin Wang
    Department of Genetics, Howard Hughes Medical Institute, Center for Genetics and Genomics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 23:729-39. 2009
    ..In this study, we employed a genetic screen to identify a gene, NBA1 (new component of the BRCA1 A complex), that is required for resistance to ionizing radiation...
  71. pmc Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families
    Katri Pylkäs
    Laboratory of Cancer Genetics, Oulu University Hospital and University of Oulu Biocenter Oulu, Oulu, Finland
    BMC Cancer 8:146. 2008
    b>BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations...
  72. doi Effect of BRCA1 haplotype on survival of non-small-cell lung cancer patients treated with platinum-based chemotherapy
    Hong Tae Kim
    Department of Biological Science, Sungkyunkwan University, Suwon, Korea
    J Clin Oncol 26:5972-9. 2008
    To determine whether germ-line variations in BRCA1 affect outcome in non-small-cell lung cancer (NSCLC) patients treated with platinum combination chemotherapy.
  73. pmc BRCA1 regulates acetylation and ubiquitination of estrogen receptor-alpha
    Yongxian Ma
    Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057 1469, USA
    Mol Endocrinol 24:76-90. 2010
    Inherited mutations of the breast cancer susceptibility gene BRCA1 confer a high risk for breast cancer development...
  74. pmc Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer
    Bryan T J Hennessy
    Department of Gynecology Medical Oncology, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    J Clin Oncol 28:3570-6. 2010
    ..3%. It is important to determine the frequency of somatic BRCA(1/2) changes, given the sensitivity of BRCA-mutated cancers to poly (ADP ribose) polymerase-1 (PARP1) inhibitors and platinum analogs...
  75. pmc BRCA1 mutations drive oxidative stress and glycolysis in the tumor microenvironment: implications for breast cancer prevention with antioxidant therapies
    Ubaldo E Martinez-Outschoorn
    Jefferson Stem Cell Biology and Regenerative Medicine Center, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA USA
    Cell Cycle 11:4402-13. 2012
    Mutations in the BRCA1 tumor suppressor gene are commonly found in hereditary breast cancer. Similarly, downregulation of BRCA1 protein expression is observed in the majority of basal-like breast cancers...
  76. ncbi A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    Y Miki
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132
    Science 266:66-71. 1994
    A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods...
  77. ncbi Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway
    I Garcia-Higuera
    Department of Pediatric Oncology, Dana Farber Cancer Institute, and Department of Pediatrics, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Mol Cell 7:249-62. 2001
    ..Activated FANCD2 protein colocalizes with the breast cancer susceptibility protein, BRCA1, in ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes...
  78. ncbi Understanding breast cancer risk -- where do we stand in 2005?
    R G Dumitrescu
    Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, DC 20057, USA
    J Cell Mol Med 9:208-21. 2005
    ..cancer risk associated with the following genetic factors: breast cancer susceptibility high-penetrance genes (BRCA1, BRCA2, p53, PTEN, ATM, NBS1 or LKB1) and low-penetrance genes such as cytochrome P450 genes (CYP1A1, CYP2D6, ..
  79. pmc Altered proliferation and differentiation properties of primary mammary epithelial cells from BRCA1 mutation carriers
    Laura N Burga
    Department of Surgery, Division of Hematology Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA
    Cancer Res 69:1273-8. 2009
    Female BRCA1 mutation carriers have a nearly 80% probability of developing breast cancer during their life-time...
  80. pmc Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
    Nasim Mavaddat
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
    Cancer Epidemiol Biomarkers Prev 21:134-47. 2012
    Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.
  81. pmc BRCAness: finding the Achilles heel in ovarian cancer
    Georgios Rigakos
    Third Department of Medical Oncology, Hygeia Hospital, Athens, Greece
    Oncologist 17:956-62. 2012
    ..It exhibits great heterogeneity in tumor biology and treatment response. Germline mutations of DNA repair genes BRCA1/2 are the fundamental defects in hereditary ovarian cancer that expresses a distinct phenotype of high response ..
  82. pmc Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer
    E Thirthagiri
    Cancer Research Initiatives Foundation, Subang Jaya Medical Centre, Kuala Lumpur, Malaysia
    Breast Cancer Res 10:R59. 2008
    The cost of genetic testing and the limited knowledge about the BRCA1 and BRCA2 genes in different ethnic groups has limited its availability in medium- and low-resource countries, including Malaysia...
  83. ncbi BRCA1-induced apoptosis involves inactivation of ERK1/2 activities
    Ying Yan
    Eppley Institute for Research in Cancer and Allied Diseases, University of Nebraska Medical Center, Omaha, Nebraska 68198 6805, USA
    J Biol Chem 277:33422-30. 2002
    Mutation in the BRCA1 gene is associated with an increased risk of breast and ovarian cancer. Recent studies have shown that the BRCA1 gene product may be important in mediating responses to DNA damage and genomic instability...
  84. pmc Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays
    Megan S Lee
    Department of Biochemistry, School of Systems Molecular Medicine, University of Alberta, Edmonton, Alberta, Canada
    Cancer Res 70:4880-90. 2010
    Genetic screening of the breast and ovarian cancer susceptibility gene BRCA1 has uncovered a large number of variants of uncertain clinical significance...
  85. doi Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer
    Shiyu Zhang
    Women s College Research Institute, University of Toronto, 790 Bay Street, 7th Floor, Toronto, ON, Canada M5G 1N8
    Gynecol Oncol 121:353-7. 2011
    ..Most inherited cases of ovarian cancer are due to a germline mutation in BRCA1 or BRCA2...
  86. pmc Downregulation of EZH2 decreases growth of estrogen receptor-negative invasive breast carcinoma and requires BRCA1
    M E Gonzalez
    Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Oncogene 28:843-53. 2009
    ..EZH2 knockdown upregulated BRCA1 protein...
  87. doi Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
    Michelle D Sluiter
    Department of Genetics, University of Pretoria, Pretoria, 0001, South Africa
    Breast Cancer Res Treat 125:325-49. 2011
    Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer...
  88. pmc Incorporating tumour pathology information into breast cancer risk prediction algorithms
    Nasim Mavaddat
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Breast Cancer Res 12:R28. 2010
    Mutations in BRCA1 and BRCA2 confer high risks of breast cancer and ovarian cancer...
  89. ncbi BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression
    D E Jensen
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Oncogene 16:1097-112. 1998
    ..protein, BAP1, which binds to the RING finger domain of the Breast/Ovarian Cancer Susceptibility Gene product, BRCA1. BAP1 is a nuclear-localized, ubiquitin carboxy-terminal hydrolase, suggesting that deubiquitinating enzymes may ..
  90. doi Expression of BRCA1 protein in breast cancer and its prognostic significance
    Emad A Rakha
    Department of Histopathology, The Breast Unit, Nottingham City Hospital, University of Nottingham, NG5 1PB Nottingham, UK
    Hum Pathol 39:857-65. 2008
    b>BRCA1 is a tumor suppressor gene which, when mutated, is associated with the development of hereditary breast cancers...
  91. pmc Human SNF5/INI1, a component of the human SWI/SNF chromatin remodeling complex, promotes nucleotide excision repair by influencing ATM recruitment and downstream H2AX phosphorylation
    Alo Ray
    Department of Radiology, The Ohio State University, Columbus, OH 43210, USA
    Mol Cell Biol 29:6206-19. 2009
    ..Consequently, hSNF5 deficiency resulted in a defect in H2AX and BRCA1 phosphorylation at the damage site...
  92. pmc Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features
    Nadine Tung
    Division of Hematology Oncology, Beth Israel Deaconess Medical Center, Brookline Avenue, Boston, MA 02215, USA
    Breast Cancer Res 12:R12. 2010
    Most breast cancers that occur in women with germline BRCA1 mutations are estrogen receptor-negative (ER-) and also typically lack expression of progesterone receptor (PR) and HER2 overexpression...
  93. ncbi Structure of a BRCA1-BARD1 heterodimeric RING-RING complex
    P S Brzovic
    Department of Biochemistry and Biomolecular Structure Center, University of Washington, Seattle, Washington 98195 7742, USA
    Nat Struct Biol 8:833-7. 2001
    The RING domain of the breast and ovarian cancer tumor suppressor BRCA1 interacts with multiple cognate proteins, including the RING protein BARD1...
  94. ncbi Improved survival in women with BRCA-associated ovarian carcinoma
    Ilana Cass
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Cedars Sinai Medical Center and University of California Los Angeles School of Medicine, Los Angeles, California 90048, USAA
    Cancer 97:2187-95. 2003
    ..The objective of this study was to determine the clinical characteristics, treatment response, and frequency of p53 overexpression in Ashkenazi Jewish women with hereditary ovarian carcinoma...
  95. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
    ..ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2...
  96. pmc Human immunodeficiency virus type 1 Vpr-mediated G2 arrest requires Rad17 and Hus1 and induces nuclear BRCA1 and gamma-H2AX focus formation
    Erik S Zimmerman
    Department of Pathology, School of Medicine, University of Utah, 30 N 1900 East, SOM 5C210, Salt Lake City, UT 84132, USA
    Mol Cell Biol 24:9286-94. 2004
    ..These findings should contribute to a greater understanding of how HIV-1 manipulates the CD4(+)-lymphocyte cell cycle and apoptosis induction in the progressive CD4(+)-lymphocyte depletion characteristic of HIV-1 pathogenesis...
  97. pmc A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    Douglas F Easton
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
    Am J Hum Genet 81:873-83. 2007
    Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice...
  98. pmc MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks
    Genze Shao
    Department of Cancer Biology, Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Genes Dev 23:740-54. 2009
    Rap80 targets the breast cancer suppressor protein BRCA1 along with Abraxas and the BRCC36 deubiquitinating enzyme (DUB) to polyubiquitin structures at DNA double-strand breaks (DSBs)...
  99. pmc Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women
    Eunjung Lee
    Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA
    J Clin Oncol 29:4373-80. 2011
    ..These tumors have a poor prognosis, remain a clinical challenge, and are more common among women with BRCA1 mutations...
  100. ncbi Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2
    Thomas A Buchholz
    Department of Radiation Oncology, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Int J Cancer 97:557-61. 2002
    The BRCA1 and BRCA2 gene products are thought to play important roles in the processing of DNA damage...
  101. ncbi BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains
    Clémence Magnard
    Laboratoire de Genetique, CNRS UMR 5641, Universite Claude Bernard Lyon I, Faculte de Medecine Rockefeller, 8 avenue Rockefeller, 69373 Lyon Cedex 08, France
    Oncogene 21:6729-39. 2002
    Germ-line alterations in BRCA1 are associated with an increased susceptibility to breast and ovarian cancer. BRCA1 is a 220-kDa protein that contains a tandem of two BRCA1 C-Terminal (BRCT) domains...

Research Grants75

  1. MOLECULAR EPIDEMIOLOGY OF BRCA1 RELATED BREAST NEOPLASIA
    Anne Blackwood Chirchir; Fiscal Year: 2002
    DESCRIPTION (Applicant's Description): Since the isolation of the breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, studies have been undertaken to evaluate the biologic functions of their protein products, the cellular ..
  2. BRCA 1 FUNCTION USING AN INDUCIBLE TRANSGENE
    EDWARD GUNTHER; Fiscal Year: 2003
    Women carrying germline mutations in the BRCA1 tumor suppressor gene have a lifetime risk of breast cancer that may be as high as 80 to 90%...
  3. Structural and Functional Characterization of BRCA1
    Rachel Klevit; Fiscal Year: 2007
    DESCRIPTION (provided by applicant): The breast and ovarian cancer tumor suppressor protein, BRCA1, supports a number of fundamental cellular processes...
  4. Regulation of BRCA1 Function by Protein Phosphatase 1
    Lih Ching Hsu; Fiscal Year: 2009
    The long-term goal of this research project is to understand the regulation BRCA1 function and to provide new insights into the etiology of breast and ovarian cancer and also provide new targets for the development of novel therapeutic ..
  5. Centrosomes and BRCA1
    Jeffrey D Parvin; Fiscal Year: 2010
    Why mutations in the BRCA1 gene result in breast and ovarian cancer is unknown...
  6. Obesity susceptibility loci and breast cancer risk in BRCA1 and BRCA2 mutation ca
    JONATHAN ANDREW MITCHELL; Fiscal Year: 2013
    ..will lead involves investigating if genetic predisposition to obesity modifies breast cancer risk in female BRCA1 and BRCA2 mutation carriers...
  7. Wei Zheng; Fiscal Year: 2015
    ..identified genetic factors, along with high-penetrance susceptibility genes reported previously (such as the BRCA1 and BRCA2 genes), explain only a small fraction of genetic variation for breast cancer...
  8. Role of the Mullerian Tract in Ovarian Cancer Development
    Louis Dubeau; Fiscal Year: 2013
    ..Dubeau's laboratory that suggests that inactivation of Brca1 in ovarian granulosa cells stimulate neoplastic transformation in tissues that are embryologically derived from ..
  9. PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERS
    Gail Tomlinson; Fiscal Year: 2002
    The identification of the two major breast cancer predisposition genes, BRCA1 and BRCA2, has heralded an era of genetic risk assessment which in turn has helped to facilitate the development of new strategies for early detection and ..
  10. Eliot M Rosen; Fiscal Year: 2014
    ..provided by applicant): We have studied the functional interaction of the breast cancer susceptibility gene-1 (BRCA1) and the estrogen receptor (ER-1) for the past 10 years...
  11. Celina G Kleer; Fiscal Year: 2016
    ..Our lab has provided the first mechanistic link between EZH2 and BRCA1. EZH2 controls the intracellular distribution of BRCA1 on breast cells and regulates the transition between G2 and ..
  12. HTS Assay to Identify Small Molecule Activators of BRCA1 Expression
    Lisa M Harlan-Williams; Fiscal Year: 2012
    ..chemical probe that will serve as an activator of the tumor suppressor gene, breast cancer susceptibility gene 1 (BRCA1)...
  13. Ellis R Levin; Fiscal Year: 2014
    ..parameters, including tumor type, metastasis, response to various therapies (including tamoxifen), mortality, and BRCA1 mutation status from 15 years data...
  14. Bing Xia; Fiscal Year: 2016
    ..function? PUBLIC HEALTH RELEVANCE: The proposed studies will generate important insights into the operation of the BRCA1-PALB2- BRCA2 genome integrity control pathway that is crucial for the suppression of breast cancer and a number of ..
  15. The Role of Syndecan-1 in Mouse Mammary Neoplasia
    CAROLINE MARGARET ALEXANDER; Fiscal Year: 2012
    ..By transcriptional profiling, they cluster in a mouse subgroup (including tumors from BRCA1, p53 and Wnt transgenic mice) that resembles the profile of basaloid, triple negative group from women...
  16. A chemical crosslinking strategy to determine DNA methylating protein complexes
    LUCY ANN GODLEY; Fiscal Year: 2010
    ..we propose focusing on determining the protein complexes that mediate the hypermethylation of the promoters of BRCA1, a classic tumor suppressor gene, and CDH1, which encodes a protein important for cell adhesion, using two ..
  17. Ronny I Drapkin; Fiscal Year: 2014
    ..cancer, called basal-like carcinoma, which occurs more frequently in younger, pre-menopausal women, including BRCA1 mutation carriers, where mammography is not as effective...
  18. Examination of the BRCA1-dependent DNA Repair Pathway in Basal-like Breast Tumors
    Hann Hsiang Chao; Fiscal Year: 2013
    ..with significantly higher frequency in African Americans and women with germline mutations in breast cancer 1 (BRCA1)...
  19. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    FERGUS JOSEPH COUCH; Fiscal Year: 2012
    PROJECT SUMMARY/ABSTRACT The penetrance of breast cancer in BRCA1 mutation carriers appears to vary considerably. The cumulative risk of breast cancer by age 70 for a BRCA1 mutation carrier has been estimated at anywhere from 44% to 80%...
  20. Yosef Yarden; Fiscal Year: 2014
    ..For example, loss of expression of p53, PTEN, BRCA1 and Rb (basal-like models) and co-amplified, chromosome 17 genes (HER2 models)...
  21. SARAH JAMES HILL; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): BRCA1 (B1) is a breast and ovarian tumor suppressor. Its best known function is in the repair of double strand breaks (DSB) by homologous recombination (HR)...
  22. Transscleral Transport & Polymeric Delivery of Antibody & Steroids for Macular Ed
    Ashim K Mitra; Fiscal Year: 2010
    ..and metabolism) of these compounds in ocular fluids and tissue homogenates including retina/choroid, lens, iris-ciliary body, sclera, vitreous humor and aqueous humor (3) to determine enzymatic stability of steroids, their ..
  23. Sensimmer Virtual Phaco Trainer for Cataract Surgery
    P Pat Banerjee; Fiscal Year: 2011
    ..stability or material properties of the eye and lens capsule (involuntary eye movement, posterior synechia = iris attached to lens, weak zonules, high vitreous pressure, capsular thickness and fragility in young vs...
  24. The immunopathogenesis of HIV-related Immune Reconstitution Inflammatory Syndrome
    DAVID BISAGAYA MEYA; Fiscal Year: 2013
    ..this proposal are to identify biomarkers to diagnose and predict HIV immune reconstitution inflammatory syndrome (IRIS) associated with cryptococcal meningitis (CM) in AIDS patients at the Infectious Diseases Institute (IDI) in ..
  25. Igor J Koralnik; Fiscal Year: 2016
    The immune reconstitution inflammatory syndrome (IRIS) is a frequent complication of antiretroviral therapy in HIV+ individuals...
  26. Insulin Resistance Intervention after Stroke (IRIS) Trial
    Walter N Kernan; Fiscal Year: 2013
    ..New therapies are urgently needed. The Insulin Resistance Intervention after Stroke (IRIS) trial is a randomized, double-blind, placebo-controlled study that is seeking to meet this need...
  27. BRENDA LYNN BOHNSACK; Fiscal Year: 2016
    ..Malformations of the cornea, iris, and iridocorneal angle result from anterior segment dysgenesis and include Axenfeld-Rieger Syndrome (ARS) and ..
  28. Inflammatory processes in Pneumocystis-associated pulmonary hypertension.
    Steve D Swain; Fiscal Year: 2013
    ..However, there has been a sharp upturn in the incidence of both immune reconstitution inflam- matory syndrome (IRIS) and chronic, debilitating diseases in this patient group, including the condition that is the focus of this ..
  29. KAYARAT SAIDAS NAIR; Fiscal Year: 2016
    ..In ACG, due to a combination of various anatomical and physiological factors, the iris is pushed forward causing physical blockage of the ocular drainage structure...
  30. ADAPT: After Deployment Adaptive Parenting Tools
    BRION contact MARQUEZ; Fiscal Year: 2010
    ..b>IRIS Media, a recipient of 12 Telly media awards, maintains an active parent-training product line...
  31. Catherine Anne McCarty; Fiscal Year: 2014
    ..Use of clinically meaningful GWAS data could save sight and health care costs. ..
  32. Alcohol Servers Applying Psychology
    ADAM JOHN WENDT; Fiscal Year: 2011
    ..This training will be delivered through a sophisticated yet user-friendly web delivery platform (IRIS Ed Online) developed by IRIS Media to extend the reach of public health interventions and disseminate training on a ..
  33. Tsutomu Kume; Fiscal Year: 2014
    ..mice for Foxc1 have numerous ocular abnormalities, including lack of the anterior chamber and corneal endothelium, iris dystrophy and abnormalities of the trabecular meshwork...
  34. James R Lokensgard; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Immune reconstitution inflammatory syndrome (IRIS) has emerged as a major clinical complication in the management of HIV infection following the initiation of combination antiretroviral therapy (cART)...
  35. NEEL RAJNIKANT GANDHI; Fiscal Year: 2014
    ..e., greater incidence of adverse reactions and immune reconstitution inflammatory syndrome [IRIS], or lower adherence) that compromise both MDR TB and HIV outcomes...
  36. Paul R Bohjanen; Fiscal Year: 2015
    ..paradoxical deterioration in their clinical status because of HIV immune reconstitution inflammatory syndrome (IRIS)...
  37. David R Boulware; Fiscal Year: 2014
    ..Aim #2: Determine the safety and tolerability of early ART versus standard ART with respect to the: incidence of IRIS, virologic suppression, microbiologic clearance, ART discontinuation, and adverse events...
  38. MRI Biometry of the Pseudophakic Cadaver Eye
    Susan A Strenk; Fiscal Year: 2010
    ..The high-resolution MRI techniques developed by the PI are not hampered by the iris and are thus able to provide non- invasive in-situ visualization of the entire IOL (optic and haptics) and fully ..
  39. AD LENS PATHOLOGY: BIOCHEMISTRY & DIAGNOSTIC IMAGING
    Lee E Goldstein; Fiscal Year: 2010
    ..Because these unusual cataracts are located at the lens periphery behind the iris, this phenotype is neither visually disabling nor observable by routine examination...
  40. Impact of malnutrition on TB-IRIS and pharmacokinetics of TB and ARV co-treatment
    ANNELIES T A VAN RIE; Fiscal Year: 2012
    ..interactions, overlapping drug toxicities, and the occurrence of the immune reconstitution inflammatory syndrome (IRIS)...
  41. David R Boulware; Fiscal Year: 2016
    ..CSF IL-7;iii) higher CSF amphotericin levels;iv) development of immune reconstitution inflammatory syndrome (IRIS)...
  42. Lu Lu; Fiscal Year: 2014
    ..One of the parental strains of BXD, DBA/2J, develop an age-related glaucoma that is preceded by iris atrophy and pigment dispersion...
  43. In Vivo Evaluation of Presbyopia
    Kathryn Richdale; Fiscal Year: 2013
    ..to the use of cadaveric eyes;and ex vivo work using non- physiological forces and discounting the role of the iris, vitreous, and choroid...
  44. A Fluorescence-based Optomechanical Sensor for Intraocular Pressure Monitoring
    NIKOLAOS CHRONIS; Fiscal Year: 2013
    ..The NiFO sensor is integrated into an intraocular lens or surgically attached on the iris and therefore permanently implanted into the patient's eye...
  45. BRION MARQUEZ; Fiscal Year: 2014
    ..b>IRIS Media, a recipient of 12 Telly media awards, maintains an active parent-training product line...
  46. Exfoliation Syndrome: Development of a cell culture model of fibril formation
    JORGE A GHISO; Fiscal Year: 2010
    ..tri-dimensional cultures as well as previous technical experience acquired by the research group in culturing iris pigmented epithelial (IPE) cells to: (a) conduct proteomic analysis of XF-like fibrils produced in vitro by Tenon&..
  47. Cross Species Imaging of Schizophrenia
    Scott A Schobel; Fiscal Year: 2012
    ..I have chosen Dr. Iris Asllani and Larry Kegeles for mentorship in ASL and MRS, respectively, two experts in these areas of brain imaging ..
  48. A DATABASE OF IOL POSITION AND BEHAVIOR
    Susan A Strenk; Fiscal Year: 2010
    ..The high-resolution MRI techniques developed by the Principal Investigator are not hampered by the iris and are thus able to provide non-invasive visualization of the entire IOL (optic and haptics) and fully ..
  49. Immunology and Outcomes after HAART in HIV/TB Coinfection
    Gregory P Bisson; Fiscal Year: 2013
    ..suffering early deaths via rapid immune recovery and severe or fatal immune reconstitution inflammatory syndrome (IRIS)...
  50. GENE REGULATION IN LENS REGENERATION
    Panagiotis A Tsonis; Fiscal Year: 2013
    ..Upon lentectomy, the pigmented epithelial cells (PECs) from the dorsal iris dedifferentiate and subsequently differentiate into lens cells...
  51. CD4 T cell-mediated lung damage in Pneumocystis pneumonia
    Allen G Harmsen; Fiscal Year: 2013
    ..by applicant): AIDS patients that have initiated HAART treatment can develop lung inflammatory disease (such as IRIS) as they become CD4 T cell-competent...
  52. Specification and development of ciliary body and anterior eye epithelium
    Jeanette Hyer; Fiscal Year: 2010
    ..The ciliary body and iris have been identified as containing resident retinal neural stem cells...
  53. The Molecular Genetics of Pigmentary Glaucoma
    John H Fingert; Fiscal Year: 2010
    ..The defining characteristic of PDS is the release of pigment from the iris that causes many patients to develop pigmentary glaucoma and vision loss...
  54. Immune Reconstitution Syndrome in HIV infected Persons in Resource-Limited Areas
    David R Boulware; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): HIV Immune Reconstitution Inflammatory Syndrome (IRIS) is a newly recognized complication of anti- retroviral therapy (ART) whereby some persons initiating ART experience paradoxically clinical ..
  55. Neuropathogenesis of Immune Reconstitution Syndrome with HIV Infection
    Avindra Nath; Fiscal Year: 2010
    Immune reconstitution inflammatory syndrome (IRIS) in the brain is a devastating disease that can cause severe encephalitis and death upon initiation of combination antiretroviral therapy particularly in patients with high CSF viral load...
  56. Philip J Gage; Fiscal Year: 2015
    ..vessels from the developing and mature cornea, and regulate cell proliferation and lineage specification within the iris and structures of the iridocorneal angle...
  57. Michael G Anderson; Fiscal Year: 2016
    ..Our objective in this proposal is to test the genetic pathways contributing to phenotypes of this mouse strain and test the significance of these genes among human pseudoexfoliation patients. ..
  58. Conditional Chemical Regulation of Pax6 Protein during Mouse Iris Development
    Joseph H Bayle; Fiscal Year: 2010
    ..in aniridia in humans heterozygous for Pax6 mutation and in Small eye (Sey) in mice each characterized by severe iris hypoplasia...
  59. The Role of Immune Reconstitution Inflammatory Syndrome (IRIS) in Pulmonary Tuber
    David Martin Murdoch; Fiscal Year: 2011
    ..This study will build upon the UNC/WITS collaborative immune reconstitution inflammatory syndrome (IRIS) research project initiated in 2005...
  60. Mechanical Interaction between Aqueous Humor and Iris
    Victor Barocas; Fiscal Year: 2009
    b>Iris contour is critical in angle-closure, pigment dispersion syndrome, and pigmentary glaucoma...
  61. DNA Repair and Replication Re-start in vivo
    Susan M Rosenberg; Fiscal Year: 2013
    ..the net reduction in cells of intermolecular intermediates in HR (intermolecular recombination intermediates or IRIs), which can block chromosome segregation causing death if left unresolved, RecQ can promote net accumulation of ..
  62. Low-Cost Device for Digital Retinal Imaging
    Ann E Elsner; Fiscal Year: 2010
    ..component, which is extremely inexpensive, as diabetic patients with dark eyes can have new vessel growth in the iris that leads to painful and sight-threatening glaucoma...
  63. Hign Performance MEMS Deformable Mirror for Adaptive Optics Retinal Imaging
    MICHAEL HELMBRECHT; Fiscal Year: 2009
    b>Iris AO is developing exciting technologies that enable in vivo cellular-level retinal imaging. The cutting-edge adaptive-optics (AO) systems Iris AO develops increases the axial and transverse resolution of retinal images 5 fold...
  64. Arizona Complementary and Alternative Medicine Research Training Program
    IRIS ROBERTA BELL; Fiscal Year: 2011
    ..T32 application for the Arizona Complementary and Alternative Medicine Research Training Program (ACAMRTP, PI Iris R...
  65. Rahul Nene; Fiscal Year: 2015
    ..The success of poly(ADP-ribose) polymerase (PARP) inhibitors against cancers with defects in the BRCA1 and BRCA2 genes demonstrates that a synthetic lethality inspired approach can be successful in the context of ..
  66. FERGUS JOSEPH COUCH; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Women with germline inactivating mutations in the BRCA1 and BRCA2 genes are at significantly elevated risk of breast and ovarian cancer...
  67. A novel model system for risk assessment of BRCA carriers
    RORY LANDON COCHRAN; Fiscal Year: 2013
    ..It is believed that the breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, account for the majority of germ-line mutations in families with a genetic predisposition for ..
  68. SAMANTHA ACSON STREICHER; Fiscal Year: 2015
    ..This excess risk is not accounted for by BRCA1/2 mutations or by other known risk factors...
  69. The role of LKB1 in the maintenance of genomic stability.
    Zhi Xiang Xu; Fiscal Year: 2013
    ..We found that LKB1 interacts with ATM, BRCA1, and other DNA damage response (DDR) proteins in vivo...
  70. Geoffrey I Shapiro; Fiscal Year: 2014
    ..Preliminary data indicate that cdk1 participates in BRCA1-dependent S phase checkpoint control following DNA damage...
  71. Regulations of DNA Alkylation/Deamination Damage Repair
    Rabindra Roy; Fiscal Year: 2013
    ..Moreover, our preliminary results show that BRCA1 directly interacts with and stimulates MPG's activity, whereas AP-endonuclease, the next enzyme in the same ..
  72. ANDREW JESS DANNENBERG; Fiscal Year: 2015
    ..In SA1, we will define the interrelationships between PGE2, BRCA1, histone acetylation and aromatase induction, based on our novel data implicating BRCA1, Sirt-1 and CBP/p300 in ..
  73. Malathy P V Shekhar; Fiscal Year: 2015
    ..Approximately 70% of BrCas in individuals carrying a germline BRCA1 mutation are triple negative, and the incidence of BRCA1 mutations in TNBC ranges from 16-42%...
  74. LIPID AND PROTEIN PO4 TURNOVER IN IRIS OF THE EYE
    ATA ABDEL LATIF; Fiscal Year: 1999
    ..derived second messengers in agonist-induced muscle contraction in the sphincter and dilator smooth muscles of the iris-ciliary body, (b) to seek novel interactions between the cAMP and IP3-DG-CA2+ second messenger systems and the ..
  75. A High-Throughput Assay for DNA Repair Activity in the Presence of AberrantBRCA1
    JAMES MATTHEW FORD; Fiscal Year: 2010
    ..b>BRCA1, a 220kD tumor suppressor protein, has been implicated in preventing breast cancer by maintaining genetic ..