FERGUS JOSEPH COUCH

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. 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
  2. pmc Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
    K N Stevens
    Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Br J Cancer 105:1934-9. 2011
  3. pmc No evidence for association of inherited variation in genes involved in mitosis and percent mammographic density
    Celine M Vachon
    Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Breast Cancer Res 14:R7. 2012
  4. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  5. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
  6. 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
  7. pmc Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
    Fergus J Couch
    Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 21:645-57. 2012
  8. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
  9. pmc Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study
    Roger L Milne
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
    Breast Cancer Res 12:R110. 2010
  10. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010

Detail Information

Publications66

  1. 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
    ..Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers...
  2. pmc Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
    K N Stevens
    Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Br J Cancer 105:1934-9. 2011
    ..The goal of this study was to evaluate the association between inherited variation in this oncogene and risk of breast cancer...
  3. pmc No evidence for association of inherited variation in genes involved in mitosis and percent mammographic density
    Celine M Vachon
    Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Breast Cancer Res 14:R7. 2012
    ....
  4. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  5. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
    ..We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism...
  6. 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
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  7. pmc Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
    Fergus J Couch
    Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 21:645-57. 2012
    ..We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)...
  8. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
    ..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
  9. pmc Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study
    Roger L Milne
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
    Breast Cancer Res 12:R110. 2010
    ....
  10. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
    ..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
  11. pmc Genetic variation in stromal proteins decorin and lumican with breast cancer: investigations in two case-control studies
    Linda E Kelemen
    Department of Population Health Research, Alberta Cancer Board, 1331 29th Street NW, Calgary, AB T2N 4N2, Canada
    Breast Cancer Res 10:R98. 2008
    ..Altered expression of decorin and lumican is associated with breast tumors. We hypothesized that genetic variation in the decorin (DCN) and lumican (LUM) genes may contribute to breast cancer...
  12. pmc Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers
    Susan L Neuhausen
    Department of Epidemiology, University of California Irvine, 224 Irvine Hall, Irvine, CA 92697, USA
    Breast Cancer Res 11:R76. 2009
    ..In this study, we investigate the association of variants in genes involved in IGF signaling and risk of breast cancer in women who carry deleterious BRCA1 and BRCA2 mutations...
  13. pmc Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer
    Jingmei Li
    Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden
    Breast Cancer Res 12:R19. 2010
    ..In this study, we evaluate the association between mammographic density and genetic variants of the estrogen metabolic pathway...
  14. pmc Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
    Paul K Lovelock
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Herston Road, Queensland 4029, Australia
    Breast Cancer Res 9:R82. 2007
    ....
  15. pmc Linkage analysis of obesity phenotypes in pre- and post-menopausal women from a United States mid-western population
    Linda E Kelemen
    Department of Population Health Research, Alberta Health Services Cancer Care, Calgary, AB, Canada
    BMC Med Genet 11:156. 2010
    ..Women are also more likely to distribute weight in the abdomen following menopause. We investigated whether genetic loci link with obesity-related phenotypes differently by menopausal status...
  16. pmc No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer
    Ellen L Goode
    Health Sciences Research, Mayo Clinic College of Medicine, Rochester, USA
    BMC Cancer 9:312. 2009
    ..No studies of ovarian cancer have been reported to date...
  17. pmc Assessment of functional effects of unclassified genetic variants
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Hum Mutat 29:1314-26. 2008
    ....
  18. ncbi request reprint The prevalence of BRCA2 mutations in familial pancreatic cancer
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:342-6. 2007
    ..A total of 10 carriers from 180 families were identified, suggesting that BRCA2 mutations account for 6% of moderate and high-risk pancreatic cancer families...
  19. pmc AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:1416-21. 2007
    ..In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers...
  20. pmc Association of breast cancer susceptibility variants with risk of pancreatic cancer
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer Epidemiol Biomarkers Prev 18:3044-8. 2009
    ..Recently, several breast cancer susceptibility loci have been identified through genome-wide association studies. Here we evaluated possible associations between these single nucleotide polymorphisms (SNP) and pancreatic cancer risk...
  21. pmc Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Stabile 2 42, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 19:251-7. 2010
    ..Single nucleotide polymorphisms (SNP) in regulators of mitosis may promote chromosome missegregation and influence pancreatic cancer and/or survival...
  22. ncbi request reprint Genetic epidemiology of BRCA1
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Biol Ther 3:509-14. 2004
    ..In this review the current knowledge of the genetic epidemiology of BRCA1 is presented and the issues that still need to be addressed in this field are outlined...
  23. ncbi request reprint Germ line Fanconi anemia complementation group C mutations and pancreatic cancer
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Res 65:383-6. 2005
    ..Taken together these data support the assertion that inherited mutations in FANCC can predispose to pancreatic cancer...
  24. ncbi request reprint Is BRCA1 associated with familial breast cancer in India?
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer Biol Ther 1:22-3. 2002
  25. ncbi request reprint A comprehensive examination of CYP19 variation and breast density
    Janet E Olson
    Division of Epidemiology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55901, USA
    Cancer Epidemiol Biomarkers Prev 16:623-5. 2007
  26. pmc Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study
    Noralane M Lindor
    The Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Fam Cancer 9:495-502. 2010
    ..7%. PENN II model for BRCA1/2 prediction performed well in this population with higher AUC compared with our experience using four other models. The ease of use of the PENNII model is compatible with busy clinical practices...
  27. ncbi request reprint ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers
    Camilo Adem
    Division of Laboratory Genetics, Mayo Clinic and Foundation, Rochester, Minnesota, USA
    Genes Chromosomes Cancer 41:1-11. 2004
    ....
  28. ncbi request reprint 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...
  29. pmc Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery
    Aik Choon Tan
    The Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Cancer Biol Ther 7:135-44. 2008
    ....
  30. pmc Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
    Wataru Sakai
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109 1024, USA
    Nature 451:1116-20. 2008
    ..Our results suggest that secondary mutations that restore the wild-type BRCA2 reading frame may be a major clinical mediator of acquired resistance to platinum-based chemotherapy...
  31. doi request reprint Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers
    Xianshu Wang
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Cancer Res 68:971-5. 2008
    ....
  32. 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
    ....
  33. pmc Functional assays for classification of BRCA2 variants of uncertain significance
    Daniel J Farrugia
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Res 68:3523-31. 2008
    ....
  34. pmc Spontaneous vulvar papillomas in a colony of mice used for pancreatic cancer research
    Naomi M Gades
    Department of Comparative Medicine, Mayo Clinic, Scottsdale, AZ, USA
    Comp Med 58:271-5. 2008
    ..Therefore, we speculate that interaction between the genetic background of the mice and the introduced Kras oncogene may be responsible for these papillomas...
  35. pmc Cytochrome P450 2D6 and homeobox 13/interleukin-17B receptor: combining inherited and tumor gene markers for prediction of tamoxifen resistance
    Matthew P Goetz
    Department of Oncology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Clin Cancer Res 14:5864-8. 2008
    ..We sought to determine the combined effect of inherited (CYP2D6) and somatic (HOXB13/IL17BR) gene variation in tamoxifen-treated breast cancer...
  36. ncbi request reprint Utilizing Nottingham Prognostic Index in microarray gene expression profiling of breast carcinomas
    Dylan V Miller
    Department of Anatomic Pathology, Mayo Clinic, Rochester, MN 55906, USA
    Mod Pathol 17:756-64. 2004
    ..These data add support to the assertion that prognostic groups of breast carcinoma are reflected in distinguishable expression profiles of a limited set of genes...
  37. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  38. 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
    ..In addition to their utility for improved genetics counseling of patients and their families, the global assessment reported here will be invaluable for validation of functional assays, structural models, and in silico analyses...
  39. ncbi request reprint Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    Bing Xia
    Dana Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
    Mol Cell 22:719-29. 2006
    ..Thus, PALB2 licenses key cellular biochemical properties of BRCA2 and ensures its tumor suppression function...
  40. ncbi request reprint A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen
    Matthew P Goetz
    Department of Oncology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Clin Cancer Res 12:2080-7. 2006
    ..In the adjuvant treatment of estrogen receptor (ER)-positive breast cancer, additional markers are needed to identify women at high risk for recurrence...
  41. ncbi request reprint Cancer risk assessment at the atomic level
    Alvaro N A Monteiro
    Risk Assessment, Detection, and Intervention Program, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612, USA
    Cancer Res 66:1897-9. 2006
    ....
  42. ncbi request reprint Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes
    Matthew P Goetz
    Department of Oncology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Clin Oncol 23:9312-8. 2005
    ..Polymorphisms in tamoxifen metabolizing genes affect the plasma concentration of tamoxifen metabolites, but their effect on clinical outcome is unknown...
  43. ncbi request reprint Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage
    Akihiro Ohashi
    Department of Laboratory Medicine and Pathology, College of Medicine, Rochester, Minnesota 55905, USA
    J Biol Chem 280:14877-83. 2005
    ..Our results suggest that FANCD2 mediates double strand DNA break repair independently of Rad51-associated homologous recombination...
  44. ncbi request reprint A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer
    Jeremy Chien
    Mayo Clinic Cancer Center and Department of Experimental Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Oncogene 23:1636-44. 2004
    ..These observations raise the possibility of HtrA1 as a candidate tumor suppressor involved in promoting serine-protease-mediated cell death and that downregulation of HtrA1 in ovarian cancer may contribute to malignant phenotype...
  45. ncbi request reprint The 17q23 amplicon and breast cancer
    Colleen S Sinclair
    Division of Experimental Pathology, Mayo Clinic, Rochester, MN, USA
    Breast Cancer Res Treat 78:313-22. 2003
    ....
  46. ncbi request reprint BRCA2 and pancreatic cancer
    Ali Naderi
    Department of Medical Oncology, Mayo Clinic, Rochester, MN 55905, USA
    Int J Gastrointest Cancer 31:99-106. 2002
    ....
  47. ncbi request reprint TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors
    Colleen S Sinclair
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Cancer Res 62:3587-91. 2002
    ..TBX2 was determined to be preferentially amplified and overexpressed in BRCA1 and BRCA2 mutant tumors, whereas RPS6KB1 was not, suggesting a role for TBX2 amplification in the development of BRCA1- and BRCA2-associated breast tumors...
  48. ncbi request reprint BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic
    Helen A Shih
    Abramson Family Cancer Research Institute and Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Clin Oncol 20:994-9. 2002
    ..To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic...
  49. pmc Functional assays for BRCA1 and BRCA2
    Marcelo A Carvalho
    Department of Risk Assessment, Detection, and Intervention, H Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA
    Int J Biochem Cell Biol 39:298-310. 2007
    ..Here we advocate the use of functional assays to complement genetic data in the analysis of unclassified missense mutations and propose a set of standards to conduct and interpret these assays...
  50. pmc A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches
    Janet E Olson
    Department of Health Sciences Research, Division of Epidemiology, Mayo Clinic College of Medicine, Rochester, MN 55901, USA
    Breast Cancer Res Treat 102:237-47. 2007
    ..We recently published resequencing data on 88 polymorphisms identified in that gene. The hypothesis tested in this study was that polymorphisms, or haplotypes, in CYP19 are related to risk of breast cancer...
  51. ncbi request reprint Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer
    Celine M Vachon
    Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Res 67:8412-8. 2007
    ..4 cM). The putative locus on chromosome 5p is likely to account for up to 22% of variation in MD. Hence, 1 or more of the 45 candidate genes in this region could explain a large proportion of MD and, potentially, breast cancer...
  52. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  53. pmc An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    Georgia Chenevix-Trench
    Queensland Institute for Medical Research, Brisbane, Australia
    Breast Cancer Res 9:104. 2007
    ....
  54. ncbi request reprint Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer
    Simon A Gayther
    Translational Research Laboratories, University College London, London, United Kingdom
    Cancer Res 67:3027-35. 2007
    ..This study highlights the need for multicenter collaborations for genetic association studies...
  55. 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...
  56. ncbi request reprint Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer
    Sean T Martin
    Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21205 2196, USA
    Oncogene 24:3652-6. 2005
    ..37, 95% CI: 0.61-9.27). The increased prevalence of the BRCA2 K3326X polymorphism in patients with familial pancreatic cancer suggests that this polymorphism is deleterious and contributes to pancreatic cancer risk...
  57. ncbi request reprint Gene-expression-based predictors for breast cancer
    Matthew P Goetz
    N Engl J Med 356:752; author reply 752-3. 2007
  58. ncbi request reprint A common coding variant in CASP8 is associated with breast cancer risk
    Angela Cox
    Sheffield University Medical School, Sheffield S10 2RX, UK
    Nat Genet 39:352-8. 2007
    ..02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies...
  59. ncbi request reprint The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen
    Matthew P Goetz
    Department of Oncology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN, 55905, USA
    Breast Cancer Res Treat 101:113-21. 2007
    ....
  60. ncbi request reprint Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells
    Jun Zhang
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Cancer Biol Ther 5:1632-6. 2006
    ..This suggests that the correlation of an intact FA-BRCA pathway with MMC resistance may emerge as a common mechanism underlying resistance to DNA crosslinking agents in cancer patients...
  61. ncbi request reprint Functional evaluation and cancer risk assessment of BRCA2 unclassified variants
    Kangjian Wu
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Res 65:417-26. 2005
    ..This combined approach represents a useful means of addressing the functional significance and cancer relevance of UCVs in BRCA2...
  62. pmc Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
    David E Goldgar
    International Agency for Research on Cancer, Lyon, France
    Am J Hum Genet 75:535-44. 2004
    ..These results provide a demonstration of the utility of the model...
  63. pmc Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
    Deborah Thompson
    CRC Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge CB1 4RN, United Kingdom
    Proc Natl Acad Sci U S A 99:827-31. 2002
    ..65 was -11.0]. We conclude that, if a susceptibility gene does exist at this locus, it can only account for a small proportion of non-BRCA1/2 families with multiple cases of early-onset breast cancer...
  64. ncbi request reprint p53 mediates repression of the BRCA2 promoter and down-regulation of BRCA2 mRNA and protein levels in response to DNA damage
    Kangjian Wu
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 1001 Guggenheim Building, 200 First Street SW, Rochester, MN 55905, USA
    J Biol Chem 278:15652-60. 2003
    ..Thus, BRCA2 levels in the cell are regulated by three independent mechanisms in a p53-dependent manner...
  65. ncbi request reprint Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk
    Xianshu Wang
    Department of Laboratory Medicine, Mayo Clinic Mayo Clinical Medical College, Rochester, Minnesota 55905, USA
    Cancer Res 66:10302-7. 2006
    ....
  66. ncbi request reprint The role of Tbx2 and Tbx3 in mammary development and tumorigenesis
    Matthew Rowley
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    J Mammary Gland Biol Neoplasia 9:109-18. 2004
    ..Here we review the current information on the roles of Tbx2 and Tbx3 in mammary gland development and tumorigenesis...

Research Grants19

  1. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2002
    ..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. ..
  2. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  3. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
  4. Genetic epidemiology of cell division regulation in breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  5. BRCA2 missense mutations and breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  6. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    Fergus Couch; Fiscal Year: 2009
    ..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
  7. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  8. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  9. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2007
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  10. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2007
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  11. 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. ..
  12. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2005
    ..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. ..
  13. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2004
    ..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. ..
  14. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2003
    ..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. ..
  15. P21 INDUCTION BY BRCA2
    Fergus Couch; Fiscal Year: 2002
    ....
  16. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..