brca1 genes

Summary

Summary: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 17 at locus 17q21. Mutations of this gene are associated with the formation of familial breast and ovarian cancer. It encodes a large, nuclear protein that is a component of DNA repair pathways.

Top Publications

  1. ncbi New complexities for BRCA1 and BRCA2
    P Kerr
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UK
    Curr Biol 11:R668-76. 2001
  2. ncbi Gene expression profiling predicts clinical outcome of breast cancer
    Laura J van 't Veer
    Division of Diagnostic Oncology, The Netherlands Cancer Institute, 121 Plesmanlaan, 1066 CX Amsterdam, The Netherlands
    Nature 415:530-6. 2002
  3. pmc Repeated observation of breast tumor subtypes in independent gene expression data sets
    Therese Sorlie
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 100:8418-23. 2003
  4. ncbi Cancer susceptibility and the functions of BRCA1 and BRCA2
    Ashok R Venkitaraman
    University of Cambridge, CRC Department of Oncology, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, United Kingdom
    Cell 108:171-82. 2002
  5. ncbi 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
  6. ncbi Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers
    Elgene Lim
    The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
    Nat Med 15:907-13. 2009
  7. 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
  8. ncbi Biallelic inactivation of BRCA2 in Fanconi anemia
    Niall G Howlett
    Department of Pediatric Oncology, Children s Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Science 297:606-9. 2002
  9. ncbi A breast cancer prediction model incorporating familial and personal risk factors
    Jonathan Tyrer
    Department of Epidemiology, Mathematics and Statistics, Cancer Research UK
    Stat Med 23:1111-30. 2004
  10. ncbi Breast and ovarian cancer
    Richard Wooster
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
    N Engl J Med 348:2339-47. 2003

Research Grants

  1. Role of the Mullerian Tract in Ovarian Cancer Development
    Louis Dubeau; Fiscal Year: 2013
  2. INHERITED BREAST CANCER IN CHINESE WOMEN
    Elaine Ostrander; Fiscal Year: 1999
  3. PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERS
    Gail Tomlinson; Fiscal Year: 2002
  4. BREAST CANCER GROWTH SUPPRESSOR GENE
    Graham Casey; Fiscal Year: 2001
  5. Weight Gain in African American Breast Cancer Survivors
    Chanita Hughes Halbert; Fiscal Year: 2005
  6. African American Participation in Cancer Genetics Research
    Chanita Hughes Halbert; Fiscal Year: 2009
  7. Multi-Dimensional Cultural Values
    Chanita Hughes Halbert; Fiscal Year: 2009
  8. INTERACTIVE DECISION AID FOR BRCA 1/2 MUTATION CARRIERS
    Marc Schwartz; Fiscal Year: 2003
  9. Telephone-Based Genetic Counseling: An Equivalence Trial
    Marc Schwartz; Fiscal Year: 2008
  10. Decisions & Outcomes of BRCA1/2 Test for Breast Patients
    Marc Schwartz; Fiscal Year: 2008

Detail Information

Publications285 found, 100 shown here

  1. ncbi New complexities for BRCA1 and BRCA2
    P Kerr
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UK
    Curr Biol 11:R668-76. 2001
    ..A large number of diverse functions have been attributed to the BRCA1 and BRCA2 breast cancer susceptibility genes. Here we review recent progress in the field...
  2. ncbi Gene expression profiling predicts clinical outcome of breast cancer
    Laura J van 't Veer
    Division of Diagnostic Oncology, The Netherlands Cancer Institute, 121 Plesmanlaan, 1066 CX Amsterdam, The Netherlands
    Nature 415:530-6. 2002
    ..This gene expression profile will outperform all currently used clinical parameters in predicting disease outcome. Our findings provide a strategy to select patients who would benefit from adjuvant therapy...
  3. pmc Repeated observation of breast tumor subtypes in independent gene expression data sets
    Therese Sorlie
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 100:8418-23. 2003
    ..Our results strongly support the idea that many of these breast tumor subtypes represent biologically distinct disease entities...
  4. ncbi Cancer susceptibility and the functions of BRCA1 and BRCA2
    Ashok R Venkitaraman
    University of Cambridge, CRC Department of Oncology, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, United Kingdom
    Cell 108:171-82. 2002
    ..Here, I examine what is known about the biological functions of the BRCA proteins and ask how their disruption can induce susceptibility to specific types of cancer...
  5. ncbi 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
    ..We conducted a clinical evaluation in humans of olaparib (AZD2281), a novel, potent, orally active PARP inhibitor...
  6. ncbi Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers
    Elgene Lim
    The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
    Nat Med 15:907-13. 2009
    ..Our findings suggest that an aberrant luminal progenitor population is a target for transformation in BRCA1-associated basal tumors ...
  7. 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
    ..The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers...
  8. ncbi Biallelic inactivation of BRCA2 in Fanconi anemia
    Niall G Howlett
    Department of Pediatric Oncology, Children s Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Science 297:606-9. 2002
    ..Our results link the six cloned FA genes with BRCA1 and BRCA2 in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families with BRCA1 or BRCA2 mutations...
  9. ncbi A breast cancer prediction model incorporating familial and personal risk factors
    Jonathan Tyrer
    Department of Epidemiology, Mathematics and Statistics, Cancer Research UK
    Stat Med 23:1111-30. 2004
    ..This risk was further refined based on the woman's personal history. The model has been incorporated into a computer program that gives a personalised risk estimate...
  10. ncbi Breast and ovarian cancer
    Richard Wooster
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
    N Engl J Med 348:2339-47. 2003
  11. pmc Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    Jan P Schouten
    MRC Holland, Hudsonstraat 68, 1057SN Amsterdam, The Netherlands
    Nucleic Acids Res 30:e57. 2002
    ..Probe target sequences are small (50-70 nt). The prerequisite of a ligation reaction provides the opportunity to discriminate single nucleotide differences...
  12. 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
    ..Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset...
  13. ncbi BRCA1 and BRCA2 and the genetics of breast and ovarian cancer
    P L Welcsh
    Departments of Medicine and Genetics, Box 357720, University of Washington, Seattle, WA 98195 7720, USA
    Hum Mol Genet 10:705-13. 2001
    ..Central to this model of BRCA-mediated tumorigenesis are estrogen-mediated proliferation of breast and ovarian epithelium and the distinctive genomic context of the BRCA genes...
  14. ncbi Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation
    R Hakem
    Amgen Institute, Toronto, Ontario, Canada
    Nat Genet 16:298-302. 1997
    ..5. The fact that mutation of neither p53 nor p21 completely rescued Brca1 (5-6) embryos suggests that their lethality is likely due to a multi-factorial process...
  15. ncbi Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis
    Tari A King
    Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Ann Surg Oncol 14:2510-8. 2007
    ..However, several lines of evidence suggest that phenotypic effects may result from BRCA haploinsufficiency...
  16. 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
    ..These results bring functional assays for BRCA1 closer to clinical applicability...
  17. pmc The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    Esther M John
    Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA
    Breast Cancer Res 6:R375-89. 2004
    ....
  18. ncbi Hallmarks of 'BRCAness' in sporadic cancers
    Nicholas Turner
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UK
    Nat Rev Cancer 4:814-9. 2004
    ..These common properties might have important implications for the clinical management of these cancers...
  19. ncbi Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
    ..Furthermore, other breast cancer genes generally are not evaluated...
  20. 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
    ..0, 95% confidence interval = 1.9 to 43; P =.002, two-sided Fisher's exact test). Thus, germline BRCA1 mutations appear to be associated with a distinctive breast cancer phenotype...
  21. ncbi Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
    ....
  22. ncbi A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis
    Jie Shen
    Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Carcinogenesis 29:1963-6. 2008
    ....
  23. ncbi Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition
    Nebojsa Mirkovic
    Laboratory of Molecular Biophysics, Pels Family Center for Biochemistry and Structural Biology, Rockefeller University, New York, New York, USA
    Cancer Res 64:3790-7. 2004
    ..Such a structure-based approach may be helpful in an integrated effort to identify mutations that predispose individuals to cancer...
  24. ncbi Inactivation of BRCA1 and BRCA2 in ovarian cancer
    Jeffrey L Hilton
    Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Holden Comprehensive Cancer Center, Iowa City, IA, USA
    J Natl Cancer Inst 94:1396-406. 2002
    ..Our goal was to characterize BRCA2 mutations and mRNA expression in a group of ovarian tumors previously evaluated for BRCA1 mutations and mRNA expression...
  25. ncbi Breast cancer susceptibility genes. BRCA1 and BRCA2
    L C Brody
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4442, USA
    Medicine (Baltimore) 77:208-26. 1998
    ..Thus, the nature of clinical testing for BRCA1 and BRCA2 continues to present challenges that reinforce the necessity of personal choice within the context of thorough genetic counseling...
  26. pmc Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
    V Abkevich
    Myriad Genetics, Inc, Salt Lake City, UT, 84108, USA
    J Med Genet 41:492-507. 2004
    ..Before this study, only 21 of these missense changes were classified as deleterious or suspected deleterious and 14 as neutral or of little clinical significance...
  27. ncbi BRCA1 facilitates microhomology-mediated end joining of DNA double strand breaks
    Qing Zhong
    Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78245, USA
    J Biol Chem 277:28641-7. 2002
    ..These results provide evidence that Brca1 has an essential role in microhomology-mediated end joining and suggest a novel molecular basis for its caretaker role in the maintenance of genome integrity...
  28. ncbi Association between nonrandom X-chromosome inactivation and BRCA1 mutation in germline DNA of patients with ovarian cancer
    R E Buller
    Department of Pharmacology, The University of Iowa Hospitals and Clinics, Iowa City 52242 1009, USA
    J Natl Cancer Inst 91:339-46. 1999
    ..This scenario could represent a previously unrecognized mechanism for development of hereditary cancers. We investigated whether such a mechanism might contribute to the development of hereditary ovarian cancers...
  29. ncbi Quality-of-life effects of prophylactic salpingo-oophorectomy versus gynecologic screening among women at increased risk of hereditary ovarian cancer
    Joanna B Madalinska
    Division of Psychosocial Research and Epidemiology, Department of Gynecology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    J Clin Oncol 23:6890-8. 2005
    ..The aim of the current study was to determine the quality-of-life (QOL) effects of PBSO versus GS...
  30. ncbi Cancer of the ovary
    Stephen A Cannistra
    Program of Gynecologic Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
    N Engl J Med 351:2519-29. 2004
  31. ncbi Polygenic susceptibility to breast cancer and implications for prevention
    Paul D P Pharoah
    Cancer Research UK Human Cancer Genetic Group, Department of Oncology, Strangeways Research Laboratories, Worts Causeway, Cambridge, CB1 8RN, UK
    Nat Genet 31:33-6. 2002
    ..These results suggest that the construction and use of genetic-risk profiles may provide significant improvements in the efficacy of population-based programs of intervention for cancers and other diseases...
  32. ncbi Contributions of ATM mutations to familial breast and ovarian cancer
    Yvonne R Thorstenson
    Stanford Genome Technology Center, Palo Alto, California 94304 1103, USA
    Cancer Res 63:3325-33. 2003
    ..This study indicates that there is a significant prevalence of ATM mutations in breast and ovarian cancer families and adds to a growing body of evidence that ATM mutations confer increased susceptibility to breast cancer...
  33. ncbi Hereditary breast cancer: new genetic developments, new therapeutic avenues
    Philippe M Campeau
    Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada
    Hum Genet 124:31-42. 2008
    ..Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches...
  34. ncbi Association of BRCA1 with Rad51 in mitotic and meiotic cells
    R Scully
    The Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
    Cell 88:265-75. 1997
    ..These findings suggest a functional interaction between BRCA1 and Rad51 in the meiotic and mitotic cell cycles, which, in turn, suggests a role for BRCA1 in the control of recombination and of genome integrity...
  35. pmc Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan
    Alexander Liede
    University of Toronto, Sunnybrook and Women s College Health Sciences Centre, Toronto, Ontario, Canada
    Am J Hum Genet 71:595-606. 2002
    ..7; 95% CI 1.5-4.9; P=.0008) and case subjects with ovarian cancer (OR=2.4; 95% CI 1.4-4.2; P=.002). These results suggest that recessively inherited genes may contribute to breast and ovarian cancer risk in Pakistan...
  36. ncbi Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    J Med Genet 45:425-31. 2008
    ..Several algorithms that predict the likelihood of carrying a BRCA1 or a BRCA2 mutation are currently used in clinical practice to identify such individuals...
  37. pmc Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer
    Christopher P Crum
    Department of Pathology, Brigham and Womens Hospital, 75 Francis Street, Boston, MA 02115, USA
    Clin Med Res 5:35-44. 2007
    ....
  38. pmc Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer
    Valgerdur Birgisdottir
    The Icelandic Cancer Society, Molecular and Cell Biology Research Laboratory, Reykjavik, Iceland
    Breast Cancer Res 8:R38. 2006
    ..We examined the frequency of BRCA1 methylation in 143 primary sporadic breast tumours along with BRCA1 copy number alterations and tumour phenotype...
  39. pmc Vimentin and laminin expression is associated with basal-like phenotype in both sporadic and BRCA1-associated breast carcinomas
    Socorro Maria Rodriguez-Pinilla
    Laboratory of Breast and Gynaecological Cancer, Molecular Pathology Programme, Centro Nacional de Investigaciones Oncologicas CNIO, Madrid, Spain
    J Clin Pathol 60:1006-12. 2007
    ..To determine whether basal-like phenotype and vimentin and/or laminin are related in both sporadic/familial (BRCA1 or BRCA2 mutated) tumours...
  40. ncbi Characterization of a breast cancer cell line derived from a germ-line BRCA1 mutation carrier
    G E Tomlinson
    Department of Pediatrics, and the Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas 75235 8593, USA
    Cancer Res 58:3237-42. 1998
    ..This breast tumor-derived cell line may provide a useful model system for the study of familial breast cancer pathogenesis and for elucidating BRCA1 function and localization...
  41. pmc An immune response gene expression module identifies a good prognosis subtype in estrogen receptor negative breast cancer
    Andrew E Teschendorff
    Breast Cancer Functional Genomics Laboratory, Cancer Research UK Cambridge Research Institute and Department of Oncology, University of Cambridge, Robinson Way, Cambridge CB2 0RE, UK
    Genome Biol 8:R157. 2007
    ..Reliable identification of ER-negative tumors that have a good prognosis is not yet possible...
  42. ncbi Subcellular localization of the BRCA1 gene product in mitotic cells
    Lavinia Vittoria Lotti
    Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
    Genes Chromosomes Cancer 35:193-203. 2002
    ..These results are consistent with an involvement of BRCA1 in the dynamics of the mitotic spindle and in the segregation of duplicated chromosomes...
  43. ncbi Effect of BRCA mutations on the length of survival in epithelial ovarian tumors
    Y Ben David
    Department of Gynecology, Haemek Medical Center, Afula
    J Clin Oncol 20:463-6. 2002
    ..To study the role of BRCA mutations in ovarian cancer survival...
  44. ncbi The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    Roger L Milne
    Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Clin Cancer Res 14:2861-9. 2008
    ..We aimed to estimate these penetrances for women attending genetic counseling units in Spain...
  45. ncbi Constitutive activation of JAK-STAT3 signaling by BRCA1 in human prostate cancer cells
    B Gao
    Department of Pharmacology and Toxicology, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    FEBS Lett 488:179-84. 2001
    ....
  46. pmc Collaboration of Brca1 and Chk2 in tumorigenesis
    John Peter McPherson
    Advanced Medical Discovery Institute, Ontario Cancer Institute, Toronto, Ontario M5G 2C1, Canada
    Genes Dev 18:1144-53. 2004
    ..Furthermore, inactivation of Chk2 and Brca1 was cooperative in breast cancer. Our findings identify a critical role for Chk2 as a component of the DNA damage-signaling pathway activated in response to Brca1 deficiency...
  47. ncbi Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition
    Adam Pavlicek
    Genetic Information Research Institute, Mountain View, CA, USA
    Hum Mol Genet 13:2737-51. 2004
    ..Finally, on the basis of protein sequence conservation, we identified missense changes that are likely to compromise BRCA1 function...
  48. ncbi The genetics of breast cancer susceptibility
    N Rahman
    Section of Cancer Genetics, Haddow Laboratories, Sutton, Surrey, United Kingdom
    Annu Rev Genet 32:95-121. 1998
    ..Finally, it is probable that the genes underlying a substantial component of susceptibility to breast cancer remain to be identified...
  49. ncbi Evidence for purifying selection acting on silent sites in BRCA1
    L D Hurst
    Department of Biology and Biochemistry, University of Bath, Claverton Down, BA27AY, Bath, UK
    Trends Genet 17:62-5. 2001
    ..Unusually, this peak is caused by a plummet in the silent-site rate of evolution. The most parsimonious interpretation of these data is that purifying selection is acting on silent sites...
  50. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    ....
  51. ncbi Cancer Incidence in BRCA1 mutation carriers
    Deborah Thompson
    Cancer Research UK, Genetic Epidemiology Unit, University of Cambridge, United Kingdom
    J Natl Cancer Inst 94:1358-65. 2002
    ..To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America...
  52. ncbi A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
    Genet Epidemiol 29:1-11. 2005
    ..The power to detect associations is, however, reduced compared with an unweighted approach...
  53. 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
    ..These results thus reveal a novel corepressor function for BRCA1 and provide a mechanistic basis for the biological activity of BRCA1 through sequence-specific transcriptional regulation...
  54. ncbi Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study
    G A Huttley
    Human Genetics Group, John Curtin School of Medical Research, The Australian National University, Canberra, Australian Capital Territory, Australia
    Nat Genet 25:410-3. 2000
    ..The clustering of between-species variation in the region of the gene encoding the RAD51-interaction domain of BRCA1 suggests the maintenance of genomic integrity as a possible target of selection...
  55. pmc Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1
    X Liu
    Department of Physiology, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Hum Genet 64:1427-39. 1999
    ..These findings have implications for the estimation of the time of origin of BRCA1 mutations having a founder effect, the interpretation of the significance of rare allelic variants, and the study of the origins of modern populations...
  56. ncbi Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy
    C Bethan Powell
    Gynecologic Oncology Program and Cancer Risk Program, University of California San Francisco Comprehensive Cancer Center, 2340 Sutter Street, Room N424, San Francisco, CA 94143, USA
    J Clin Oncol 23:127-32. 2005
    ..Two recent studies of BRCA mutation carriers reported occult malignancy in 2.5% of women undergoing RRSO. This study aimed to increase this detection rate using a protocol...
  57. pmc A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology
    R M Giusti
    J Med Genet 40:787-92. 2003
  58. ncbi A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-negative mammography
    Madeleine Tilanus-Linthorst
    Department of Surgery, Erasmus University Medical Center Rotterdam, The Netherlands
    Int J Cancer 102:91-5. 2002
    ..Pushing margins of the tumor partly explain these results. For early BC detection in mutation carriers additional methods like MRI may be needed. This may not be necessary in other young women with breast symptoms...
  59. ncbi Mutational screening of breast cancer susceptibility gene 1 from early onset, bi-lateral, and familial breast cancer patients in Taiwan
    Shou Tung Chen
    Department of Surgery, Changhua Christian Hospital, Taiwan, ROC
    Breast Cancer Res Treat 77:133-43. 2003
    ..Also found in the Taiwanese population were two common haplotypes and one rare haplotype of BRCA1. These results suggest that the mutation of BRCA1 contributes little to the occurrence of breast cancer in the Taiwanese population...
  60. ncbi Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations
    Chiara Ghimenti
    Division of Pathology, Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa, Pisa, Italy
    Genes Chromosomes Cancer 33:235-42. 2002
    ..In all cases, we were unable to find any evidence for allelic deletions. The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed...
  61. pmc Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
    BMC Cancer 8:155. 2008
    ..However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation...
  62. ncbi Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families
    Helene Vezina
    Interdisciplinary Research Group on Demography and Genetic Epidemiology GRIG, University of Quebec at Chicoutimi, Chicoutimi, Canada, G7H 2B1
    Hum Genet 117:119-32. 2005
    ..Moreover, this approach is certainly not unique to breast cancer genetics and could be used to understand other complex traits...
  63. ncbi Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families
    Siranoush Manoukian
    Medical Genetics Service, Department of Experimental Oncology and Laboratories, Istituto Nazionale Tumori, Milan, Italy
    Eur J Cancer 43:601-6. 2007
    ..These findings suggest that the screening of BRCA2, in addition to TP53, may be appropriate for the molecular characterisation of breast cancer/sarcoma families, with practical implications for counselling and clinical management...
  64. ncbi A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining
    Celine Baldeyron
    UMR 218 du CNRS, Institut Curie, Section de Recherche, Paris 75248, cedex05, France
    Oncogene 21:1401-10. 2002
    ..This defect will compromise genomic stability in BRCA1 germ-line mutation carriers, triggering the genetic changes necessary for the initiation of neoplastic transformation...
  65. ncbi Nonhomologous end-joining of ionizing radiation-induced DNA double-stranded breaks in human tumor cells deficient in BRCA1 or BRCA2
    H Wang
    Department of Radiation Oncology, Kimmel Cancer Center, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    Cancer Res 61:270-7. 2001
    ....
  66. pmc Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair
    Lao H Saal
    Institute for Cancer Genetics, Columbia University, New York, New York 10032, USA
    Nat Genet 40:102-7. 2008
    ..These findings also argue that obtaining an accurate census of genes mutated in cancer will require a systematic examination for gross gene rearrangements, particularly in tumors with deficient DSB repair...
  67. ncbi Locoregional relapse and distant metastasis in conservatively managed triple negative early-stage breast cancer
    Bruce G Haffty
    Department of Radiation Oncology, Cancer Institute of New Jersey, Robert Wood Johnson Medical School University of Medicine and Dentistry of New Jersey, New Brunswick, NJ 08903 2681, USA
    J Clin Oncol 24:5652-7. 2006
    ..To determine the prognostic significance of triple negative breast cancers with respect to locoregional relapse and distant metastasis in conservatively managed breast cancer patients...
  68. 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
    ....
  69. ncbi Increased rates of chromosome breakage in BRCA1 carriers are normalized by oral selenium supplementation
    Elzbieta Kowalska
    Centre for Research in Women s Health, 790 Bay Street, Toronto, Ontario, Canada, M5G 1N8
    Cancer Epidemiol Biomarkers Prev 14:1302-6. 2005
    ..40 versus 0.39). Oral selenium is a good candidate for chemoprevention in women who carry a mutation in the BRCA1 gene...
  70. ncbi Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    B B Roa
    Baylor DNA Diagnostic Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 14:185-7. 1996
    ....
  71. ncbi Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells
    M Lu
    Department of Medicine, Dartmouth Medical School, Hanover, New Hampshire 03755, USA
    Cancer Res 56:4578-81. 1996
    ..These splice variants are found on polysomes and are therefore predicted to encode 80-85-kDa BRCA1-derived proteins lacking approximately 60% of the internal amino acids that constitute full-length BRCA1...
  72. 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
    ..We examined a possible mechanism for the observed ER alpha-negative phenotype of BRCA1-mutant tumors...
  73. 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
    ..Although estimates of both mutation prevalence and mutation penetrance rates are inconsistent and occasionally controversial, understanding them is crucial for providing accurate risk information to each patient...
  74. ncbi Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer
    Tomas Kirchhoff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 96:68-70. 2004
    ..22 to 1.14). We thus recommend that counseling for colorectal cancer screening and prevention in individuals with BRCA mutations be based on the personal and family history of colorectal cancer or associated syndromic malignancies...
  75. ncbi Inherited predisposition and breast cancer: modifiers of BRCA1/2-associated breast cancer risk
    Timothy R Rebbeck
    Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine and Cancer Center, Philadelphia, Pennsylvania 19104 6021, USA
    Environ Mol Mutagen 39:228-34. 2002
    ..Therefore, although germline BRCA1/2 mutations raise a woman's breast and ovarian cancer risk, other factors may interact with BRCA1/2 mutations to modulate this risk...
  76. ncbi BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia
    El Harith A El-Harith
    Institute of Human Genetics, Medical School Hannover, Federal Republic of Germany
    Saudi Med J 23:700-4. 2002
    ..The aim of this pilot study was to screen the major segments of the BRCA1 and BRCA2 genes for disease-associated mutations in Arab and Asian women with breast cancer from the Kingdom of Saudi Arabia...
  77. ncbi Hereditary breast cancer growth rates and its impact on screening policy
    Madeleine M A Tilanus-Linthorst
    Department of Surgical Oncology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Eur J Cancer 41:1610-7. 2005
    ..It is recommended that the screening frequency should be adjusted according to a woman's age and a high-sensitive biannual test may be appropriate before the age of 40 years...
  78. ncbi Overexpression of a protein fragment of RNA helicase A causes inhibition of endogenous BRCA1 function and defects in ploidy and cytokinesis in mammary epithelial cells
    Brian P Schlegel
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Oncogene 22:983-91. 2003
    ..Furthermore, inhibition of BRCA1 via overexpressing the RHA fragment coincides with a reduction in PARP-1 protein expression, suggesting a possible mechanism for BRCA1 in the maintenance of genomic integrity...
  79. ncbi Precursors to pelvic serous carcinoma and their clinical implications
    Ann K Folkins
    Division of Women s and Perinatal Pathology, Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Gynecol Oncol 113:391-6. 2009
    ..The data supporting a candidate precursor, the implications of these findings for early detection and prevention of pelvic serous carcinoma and the caveats, are discussed...
  80. pmc BRCA1 mediates ligand-independent transcriptional repression of the estrogen receptor
    L Zheng
    Department of Molecular Medicine and Institute of Biotechnology, University of Texas Health Science Center, San Antonio 78245, USA
    Proc Natl Acad Sci U S A 98:9587-92. 2001
    ....
  81. ncbi Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1
    T M Smith
    Department of Molecular Biotechnology, University of Washington Medical School, Seattle 98195, USA
    Genome Res 6:1029-49. 1996
    ..An L21 ribosomal protein pseudogene is embedded in BRCA1 intron 13. The order of genes on the chromosome is: centromere-1FP 35-VAT1-Rho7-BRCA1-1A1-3B-telomere...
  82. ncbi Genomic rearrangements in the BRCA1 and BRCA2 genes
    Sylvie Mazoyer
    Laboratoire de Génétique UMR5201 CNRS, Universite Claude Bernard Lyon 1, Lyon, France
    Hum Mutat 25:415-22. 2005
    ..The principal mechanisms that are thought to lead to their formation, founder effects, and recombination hotspots, are also discussed...
  83. ncbi Good timing in the cell cycle for precise DNA repair by BRCA1
    Stephen T Durant
    Molecular Genetics and Microbiology, Cancer Research and Treatment Center, School of Medicine, University of New Mexico, Albuquerque, New Mexico 87131, USA
    Cell Cycle 4:1216-22. 2005
    ..This model provides an explanation for how BRCA1 promotes accurate DSB repair during various phases of the cell cycle and also accounts for the dual effects that BRCA1 and MRN activity have upon DNA repair and S-phase arrest...
  84. ncbi N-(4-Hydroxyphenyl)retinamide is more potent than other phenylretinamides in inhibiting the growth of BRCA1-mutated breast cancer cells
    Ann Marie Simeone
    Department of Experimental Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA
    Carcinogenesis 26:1000-7. 2005
    ..These in vitro results suggest that 4-HPR may be an effective chemopreventive agent against breast tumors that exhibit BRCA1 mutations because of its ability to induce NO-mediated apoptosis in such tumors...
  85. pmc The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Br J Cancer 98:1457-66. 2008
    ..BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html)...
  86. ncbi BRCA1 promoter region hypermethylation in ovarian carcinoma: a population-based study
    R L Baldwin
    Division of Gynecologic Oncology, The Burns and Allen Research Institute Cedars Sinai Medical Center, Los Angeles, California 90048 USA
    Cancer Res 60:5329-33. 2000
    ....
  87. 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
    ..The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers...
  88. ncbi Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk
    C T Brekelmans
    Department of Medical Oncology, Family Cancer Clinic, Dr Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
    J Clin Oncol 19:924-30. 2001
    ..The effectiveness of surveillance in high-risk women and especially BRCA1/2 mutation carriers is unknown. We present first results from a single large family cancer clinic...
  89. pmc Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort
    M Watson
    Department of Psychological Medicine, Royal Marsden NHS Foundation Trust, London and Sutton, SM2 5PT, England
    Br J Cancer 91:1787-94. 2004
    ..The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health...
  90. pmc A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein
    Nicolas Foray
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK
    EMBO J 22:2860-71. 2003
    ....
  91. ncbi Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula
    A Vega
    Unidad de Medicina Molecular, Hospital de Conxo Universidad de Santiago de Compostela, Spain
    Ann Hum Genet 66:29-36. 2002
    ..The BRCA1 330 A>G mutation was found in four unrelated families and accounted for 50% of all identified mutations...
  92. ncbi Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients
    Irene Konstantopoulou
    Molecular Diagnostics Laboratory, I R RP, National Center for Scientific Research Demokritos, Athens, Greece
    Breast Cancer Res Treat 107:431-41. 2008
    ..The suggested protocol can impact on the clinical management of breast-ovarian cancer families on a national healthcare system level...
  93. ncbi Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations
    R Scott Williams
    Department of Biochemistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada
    J Biol Chem 278:53007-16. 2003
    ....
  94. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  95. 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
    ..There may be some degree of shared ancestry for the two recurrent BRCA1 mutations in Chinese...
  96. pmc Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome
    C Kuperwasser
    Program in Molecular and Cellular Biology, Department of Veterinary and Animal Sciences, University of Massachusetts, Amherst, Massachusetts, USA
    Am J Pathol 157:2151-9. 2000
    ..These results demonstrate the critical role that the p53 tumor suppressor gene plays in preventing tumorigenesis in the mammary gland...
  97. ncbi Identification of BRCA1-IRIS, a BRCA1 locus product
    Wael M ElShamy
    The Dana Farber Cancer Institute and the Harvard Medical School, 44 Binney St, Boston, MA 02115, USA
    Nat Cell Biol 6:954-67. 2004
    ..In contrast, BRCA1-IRIS overexpression stimulated DNA replication. These data imply that endogenous BRCA1-IRIS positively influences the DNA replication initiation machinery...
  98. ncbi Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status
    T J Colgan
    Mount Sinai Hospital and the Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada
    Am J Surg Pathol 25:1283-9. 2001
    ..The entire ovaries and tubes from PO patients should be submitted for histologic examination to identify malignancy...
  99. ncbi Ets-2 and components of mammalian SWI/SNF form a repressor complex that negatively regulates the BRCA1 promoter
    Kimberly M Baker
    Department of Molecular Genetics and the Comprehensive Cancer Center, Ohio State University, Columbus, Ohio 43210, USA
    J Biol Chem 278:17876-84. 2003
    ..These results support a role for ets-2 as a repressor and indicate that components of the mammalian SNF/SWI complex are required as co-repressors...
  100. ncbi Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada
    Harvey A Risch
    Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College St, PO Box 208034, New Haven, CT 06520 8034, USA
    J Natl Cancer Inst 98:1694-706. 2006
    ..We investigated the presence of these mutations in unselected patients with newly diagnosed incident ovarian cancer in Ontario, Canada, with respect to cancers reported among their relatives...
  101. ncbi Pathologic findings in prophylactic oophorectomy specimens in high-risk women
    Katherine Leeper
    University of Washington School of Medicine, Seattle, WA, USA
    Gynecol Oncol 87:52-6. 2002
    ..To ascertain the frequency of significant pathologic alterations in prophylactic oophorectomy specimens in high-risk women referred to a tertiary care center...

Research Grants67

  1. Role of the Mullerian Tract in Ovarian Cancer Development
    Louis Dubeau; Fiscal Year: 2013
    ..We will also knockout the p53 and Brca1 genes either in derivatives of the mullerian ducts or in coelomic epithelium and will cross the resulting mouse lines ..
  2. INHERITED BREAST CANCER IN CHINESE WOMEN
    Elaine Ostrander; Fiscal Year: 1999
    ..to provide and disseminate that information by: 1) determining the frequency and types of mutations in the BRCA1 genes in cases and controls from a large, population-based, case-control study of breast cancer in Shanghai; 2) ..
  3. PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERS
    Gail Tomlinson; Fiscal Year: 2002
    ..other signs of genetic damage more rapidly and more extensively than individuals with normal copies of the BRCA1 genes. This end result of this accumulation of genetic damage is the development of breast cancer at an early stage...
  4. BREAST CANCER GROWTH SUPPRESSOR GENE
    Graham Casey; Fiscal Year: 2001
    ..They have mapped it to a 530kb region on chromosome 17q24 by MMCT, thereby excluding the p53 and BRCA1 genes. We have completed both PAC and YAC contigs, and have to date identified five candidate genes...
  5. Weight Gain in African American Breast Cancer Survivors
    Chanita Hughes Halbert; Fiscal Year: 2005
    ..abstract_text> ..
  6. African American Participation in Cancer Genetics Research
    Chanita Hughes Halbert; Fiscal Year: 2009
    ..This study will provide empirical data that can be used to develop more effective strategies for recruiting African Americans to participate in cancer genetics research that enhance decisions about study participation. ..
  7. Multi-Dimensional Cultural Values
    Chanita Hughes Halbert; Fiscal Year: 2009
    ..This study will provide a psychometrically sound instrument that can be used in clinical and research settings to provide culturally sensitive care and interventions to ethnically and racially diverse populations. ..
  8. INTERACTIVE DECISION AID FOR BRCA 1/2 MUTATION CARRIERS
    Marc Schwartz; Fiscal Year: 2003
    ..If effective, the IDA can easily be disseminated to BRCA1/2 carriers across the country and adapted for use with other populations with inherited risk for cancer. ..
  9. Telephone-Based Genetic Counseling: An Equivalence Trial
    Marc Schwartz; Fiscal Year: 2008
    ..abstract_text> ..
  10. Decisions & Outcomes of BRCA1/2 Test for Breast Patients
    Marc Schwartz; Fiscal Year: 2008
    ..UC on quality of life and psychosocial well-being; 3) To identify baseline factors that predict who is most and least likely to benefit from RGC; and 4) to evaluate the cost effectiveness of the RGC intervention. ..
  11. INTERNET INTERVENTION FOR BRCA1/BRCA2 UNINFORMATIVES
    Marc D Schwartz; Fiscal Year: 2010
    ....
  12. Distrust, Race/Ethnicity, and Predictive Genetic Testing
    Katrina Armstrong; Fiscal Year: 2005
    ....
  13. Race,Treatment and Endometrial Cancer Survival
    Katrina Armstrong; Fiscal Year: 2005
    ..In addition, within each category, we will investigate differences related to primary surgery and adjuvant radiation therapy. ..
  14. Cultural Model of Prevention in African-American Women
    Katrina Armstrong; Fiscal Year: 2004
    ..This understanding may lay the groundwork for improved understanding and trust between biomedical practitioners and African American patients. ..
  15. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  16. CLINICAL CANCER GENETICS EDUCATION
    Jeffrey Weitzel; Fiscal Year: 2005
    ..abstract_text> ..
  17. Genetic Discrimination Knowledge in Primary Care
    Jeffrey Weitzel; Fiscal Year: 2004
    ..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..
  18. Pharmacogenetic Epidemiology of Birth Defects and Cancer
    Timothy Rebbeck; Fiscal Year: 2004
    ....
  19. AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2007
    ..i ..
  20. Prophytactic surgery in carriers of BRCA 1/2 mutations
    Timothy R Rebbeck; Fiscal Year: 2010
    ..These studies will motivate future studies of BRCA1/2-associated breast tumor biology, prevention, and treatment. ..
  21. IMRT in the Treatment of Node-Positive Breast Cancer
    Lori Pierce; Fiscal Year: 2006
    ..3) Study 60 patients treated with either the best delivery-optimized motion corrected plan from Aim 2 or PWTF and compare plans using heart and lung metrics. ..
  22. BRCA1/2 Education for Mothers and Their Teen Daughters
    BETH PESHKIN; Fiscal Year: 2006
    ..It is expected that with respect to issues surrounding hereditary cancer susceptibility, the resource will result in improved knowledge, communication, and support among mothers and their teenage daughters. ..
  23. Ethnic difference in prostate cancer
    Timothy R Rebbeck; Fiscal Year: 2010
    ....
  24. Modifiers of Cancer Risk in BRCA 1/2 Mutation Carriers
    Timothy Rebbeck; Fiscal Year: 2008
    ..Our substantial multidisciplinary experience will therefore allow us to readily translate basic science and epidemiological data to clinically relevant information. ..
  25. Predictive Modeling of Call Outcomes to Poison Control Center Recommendations
    Lee Ellington; Fiscal Year: 2009
    ....
  26. ETIOLOGIC HETEROGENEITY IN LATE ONSET BREAST CANCER
    Timothy Rebbeck; Fiscal Year: 2001
    ..The results of these analyses will be used to attempt to elucidate the complex, multifactorial aetiology of late onset breast cancer. ..
  27. Communication Analysis of BRCA1 Genetic Counseling
    Lee Ellington; Fiscal Year: 2002
    ..Predictor variables of participant adjustment include: sociodemographics, communication factors (e.g., medical information), kindred, pre-test distress levels, and carrier status. ..
  28. Cellular gene expression in HPV associated neoplasia
    Christopher Crum; Fiscal Year: 2002
    ..Such methods, if successful, could conceivably revolutionize the approach to cervical cancer prevention by broadening the conditions under which screening could be conducted. ..
  29. IMRT in the Treatment of Node-Positive Breast Cancer
    Lori Pierce; Fiscal Year: 2003
    ..4) Determine the effect of motion on static IMRT and PWTF dose distributions, and then correct/adjust for motion to determine the best delivery-optimized plan. ..
  30. BRCA2 FUNCTION IN MAMMARY EPITHELIAL BIOLOGY
    Lewis Chodosh; Fiscal Year: 2002
    ..We will also determine whether Brca2 is posttranslationally modified following DNA damage in a manner similar to that observed for Brca1. Finally, we will determine whether Brca2 and Brca1 interact during these processes. ..
  31. Case-Control Study of Pancreas Cancer Etiologic Factors
    Harvey Risch; Fiscal Year: 2008
    ..The factors to be examined here have received little attention with respect to pancreas cancer, and the proposed study will evaluate them systematically in a vigorous, large-scale and integrated project. [unreadable] [unreadable]..
  32. Breast Cancer Genomics in a Founder Population
    Mary Claire King; Fiscal Year: 2008
    ..Discovery of additional breast cancer genes of moderate penetrance in the AJ population will be important to women both in this population and generally. ..
  33. P21 INDUCTION BY BRCA2
    Fergus Couch; Fiscal Year: 2002
    ....
  34. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2008
    ..The results of this research may directly affect treatment decisions, and improve preventive monitoring in high-risk families. [unreadable] [unreadable]..
  35. GENETIC ANALYSIS OF BREAST AND OVARIAN CANCER
    Mary Claire King; Fiscal Year: 2001
    ..The intent of this project is to exploit genomic technologies to integrate the identification of genes biologically related to BRCA1 with characterization of those genes in human tumors and families. ..
  36. DNA POLYMORPHISMS IN OVARIAN CANCER--CASE CONTROL STUDY
    Harvey Risch; Fiscal Year: 2002
    ..abstract_text> ..
  37. CASE CONTROL STUDY OF OVARIAN CANCER HORMONAL ETIOLOGY
    Harvey Risch; Fiscal Year: 2002
    ....
  38. Epithelial-stromal cell interactions in breast cancer
    Kornelia Polyak; Fiscal Year: 2010
    ....
  39. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2010
    ....
  40. Minicomputer Upgrade for the Clinical Resarch Database
    Colin Begg; Fiscal Year: 2002
    ..This proposal is a request for funds to upgrade the hardware platform once again to maintain the performance of the system in the face of these rapidly increasing demands. ..
  41. DFNA1 IN INHERITED HEARING LOSS
    Mary Claire King; Fiscal Year: 2001
    ....
  42. Parent Communication of BRCA1/2 Test Results to Children
    KENNETH TERCYAK; Fiscal Year: 2009
    ..Findings generated in this area offer a new paradigm within which to view and understand the psychosocial outcomes of predictive testing among tested parents and their nontested children. ..
  43. Statistical Methods for Identifying Clonal Tumors
    Colin B Begg; Fiscal Year: 2011
    ....
  44. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2006
    ..abstract_text> ..
  45. A Method for Validating Gene - Disease Associations
    Colin Begg; Fiscal Year: 2004
    ..abstract_text> ..
  46. Temporal Analysis of Mammary Carcinogenesis
    Lewis Chodosh; Fiscal Year: 2005
    ....
  47. HUNK AND PUNC FUNCTION IN MAMMARY EPITHELIAL BIOLOGY
    Lewis Chodosh; Fiscal Year: 2004
    ....
  48. Epidemiologic Parameters of Rare Cancer Risk Factors
    Colin Begg; Fiscal Year: 2005
    ..All of these aims are motivated by an international study of the genetic epidemiology of melanoma that is currently in progress. ..
  49. Pediatric Cancer Prevention and Control
    KENNETH TERCYAK; Fiscal Year: 2006
    ..I expect that this intervention will lead to the development of an R01 grant to evaluate the effectiveness of alternate interventions for pediatric smoking cessation in medical and other settings. ..
  50. Mammary Development and Breast Cancer Susceptibility
    Lewis Chodosh; Fiscal Year: 2005
    ..We anticipate that these studies will help to illuminate developmental mechanisms that contribute to the determination of breast cancer susceptibility. ..
  51. PREVENTIVE ONCOLOGY AWARD
    Anita Kinney; Fiscal Year: 2003
    ..The University of Utah is a major academic institution with many distinguished scientists, and offers an excellent environment for Dr. Kinney to develop her skills and gain additional expertise to accomplish her goals. ..
  52. Mechanisms of Progression in c-MYC-Induced Breast Cancer
    Lewis Chodosh; Fiscal Year: 2006
    ..abstract_text> ..
  53. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2006
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  54. BRCA1 TESTING IN A LARGE AFRICAN AMERICAN KINDRED
    Anita Kinney; Fiscal Year: 2003
    ..abstract_text> ..
  55. Genetic and Epigenetic Markers in Ovarian Cancer
    Elizabeth Swisher; Fiscal Year: 2006
    ..These studies may identify new prognostic or diagnostic markers in ovarian cancer. Such markers could then be tested in prospective trials to determine their clinical utility. ..
  56. A Telephone-Based Cancer Education & Prevention Intervention for Teens
    KENNETH TERCYAK; Fiscal Year: 2007
    ..Additionally, this study will lay the foundation for future, larger studies of intervention effectiveness, reach, and impact in this population. [unreadable] [unreadable] [unreadable]..
  57. HIN-1,A Novel Putative Breast Tumor Suppressor Gene
    Kornelia Polyak; Fiscal Year: 2006
    ..abstract_text> ..
  58. Structural, Computational and Epidemiologic Analyses of*
    Noah Kauff; Fiscal Year: 2006
    ..abstract_text> ..
  59. Breast cancer response markers to a dual HER1/2 blocker
    Jenny Chang; Fiscal Year: 2009
    ....
  60. KINSHIP AND SOCIO-DEMOGRAPHIC DETERMINANTS OF MORTALITY
    Ken Smith; Fiscal Year: 2002
    ..To accomplish the proposed aims, the set of Utah death certificates within the Utah Population Database will be expanded to include about 500,000 death records that cover the period 1904-1995. ..
  61. RNA Polymerase II Holoenzyme
    Jeffrey Parvin; Fiscal Year: 2005
    ..abstract_text> ..
  62. Protection Against Apoptosis by Scatter Factor
    Eliot Rosen; Fiscal Year: 2006
    ..Since SF may ameliorate certain forms of organ injury, understanding how it inhibits apoptosis may also provide new targets for the treatment of developmental, inflammatory, or toxic disorders. ..
  63. RRM1/PTEN Axis in Non-Small Cell Lung Cancer
    Gerold Bepler; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  64. Views and Approaches Toward Research Integrity Among IRBs
    Robert Klitzman; Fiscal Year: 2007
    ..We anticipate that the data from this study will serve as a significant foundation in assisting future research and the improvement of Rl through guidelines, education and other capacity building. [unreadable] [unreadable] [unreadable]..
  65. Exisulind for Chemoprevention of Lung Cancer
    Gerold Bepler; Fiscal Year: 2007
    ..The data generated by these investigations will be important for future decisions on large-scale chemoprevention trials using disease incidence and mortality as endpoints. ..