K Offit

Summary

Affiliation: Memorial Sloan-Kettering Cancer Center
Country: USA

Publications

  1. ncbi request reprint BRCA1 and BRCA2 germline mutations in lymphoma patients
    Orit Yossepowitch
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Leuk Lymphoma 44:127-31. 2003
  2. 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
  3. doi request reprint Gene patents and personalized cancer care: impact of the Myriad case on clinical oncology
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10065, USA
    J Clin Oncol 31:2743-8. 2013
  4. 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
  5. pmc Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers
    Eitan Friedman
    The Suzanne Levy Gertner Oncogenetics Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel, and the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Breast Cancer Res 8:R15. 2006
  6. pmc No major association between TGFBR1*6A and prostate cancer
    Virginia Kaklamani
    Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, Robert H Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
    BMC Genet 5:28. 2004
  7. pmc The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies
    Lutecia H Mateus Pereira
    Laboratory of Population Genetics, National Cancer Institute, Bethesda, MD 20892, USA
    BMC Genet 8:68. 2007
  8. pmc Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping
    Adam B Olshen
    Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    BMC Genet 9:14. 2008
  9. ncbi request reprint Genomic profiles for disease risk: predictive or premature?
    Kenneth Offit
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    JAMA 299:1353-5. 2008
  10. ncbi request reprint Localization of breast cancer susceptibility loci by genome-wide SNP linkage disequilibrium mapping
    Nathan A Ellis
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Genet Epidemiol 30:48-61. 2006

Detail Information

Publications111 found, 100 shown here

  1. ncbi request reprint BRCA1 and BRCA2 germline mutations in lymphoma patients
    Orit Yossepowitch
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Leuk Lymphoma 44:127-31. 2003
    ..This data indicate that germline BRCA mutations are not associated with an increased risk for lymphoid malignancies...
  2. 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)...
  3. doi request reprint Gene patents and personalized cancer care: impact of the Myriad case on clinical oncology
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10065, USA
    J Clin Oncol 31:2743-8. 2013
    ..Whatever the outcome of this important case, it is important that judicial and legislative actions in this area maximize genomic discovery while also ensuring patients' access to personalized cancer care. ..
  4. 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...
  5. pmc Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers
    Eitan Friedman
    The Suzanne Levy Gertner Oncogenetics Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel, and the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Breast Cancer Res 8:R15. 2006
    ....
  6. pmc No major association between TGFBR1*6A and prostate cancer
    Virginia Kaklamani
    Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, Robert H Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
    BMC Genet 5:28. 2004
    ..080) but the differences in TGFBR1*6A genotype distribution between cases and controls did not reach statistical significance (p = 0.67). Our data suggest that TGFBR1*6A does not contribute to the development of prostate cancer...
  7. pmc The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies
    Lutecia H Mateus Pereira
    Laboratory of Population Genetics, National Cancer Institute, Bethesda, MD 20892, USA
    BMC Genet 8:68. 2007
    ..We evaluated LD using pairwise and haplotype-based methods, and assessed correlation of SNPs with the founder mutations using Pearson's correlation coefficient...
  8. pmc Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping
    Adam B Olshen
    Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    BMC Genet 9:14. 2008
    ..435,632 SNPs overlapped and met annotation criteria in the two groups...
  9. ncbi request reprint Genomic profiles for disease risk: predictive or premature?
    Kenneth Offit
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    JAMA 299:1353-5. 2008
  10. ncbi request reprint Localization of breast cancer susceptibility loci by genome-wide SNP linkage disequilibrium mapping
    Nathan A Ellis
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Genet Epidemiol 30:48-61. 2006
    ..While these results demonstrate the feasibility of genome-wide association strategies, further application of this approach will critically depend on optimizing the density and distribution of SNPs and the size and type of study design...
  11. pmc Personalized medicine: new genomics, old lessons
    Kenneth Offit
    Clinical Genetics Service, Department of Medicine, Program in Cancer Biology and Genetics, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Hum Genet 130:3-14. 2011
    ....
  12. pmc Frequency of CHEK2*1100delC in New York breast cancer cases and controls
    Kenneth Offit
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    BMC Med Genet 4:1. 2003
    ..While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear...
  13. doi request reprint Ethicolegal aspects of cancer genetics
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Cancer Treat Res 155:1-14. 2010
    ..These and other issues will be discussed within the framework of a bioethical model, with reference to recent case law...
  14. ncbi request reprint Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 95:1548-51. 2003
    ..Individuals who carry a germline BRCA2 mutation and who plan to have children with a partner of Ashkenazi Jewish descent should consider undergoing genetic counseling...
  15. ncbi request reprint Cancer genetic testing and assisted reproduction
    Kenneth Offit
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
    J Clin Oncol 24:4775-82. 2006
    ..Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations...
  16. ncbi request reprint The "duty to warn" a patient's family members about hereditary disease risks
    Kenneth Offit
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    JAMA 292:1469-73. 2004
    ....
  17. ncbi request reprint Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine
    Kenneth Offit
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    JAMA 296:2727-30. 2006
  18. ncbi request reprint Ethical and legal aspects of cancer genetic testing
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Semin Oncol 34:435-43. 2007
    ..An approach to these and other ethical challenges will be presented, drawing not only on recent case law but also on a broader bioethical framework...
  19. ncbi request reprint BRCA-associated breast cancer in young women
    M Robson
    Department of Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Clin Oncol 16:1642-9. 1998
    ..To delineate the clinical characteristics and outcomes of breast cancer that arises in the setting of a germline BRCA mutation and to compare BRCA-associated breast cancers (BABC) with those that arise in women without mutations...
  20. doi request reprint Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families
    Zsofia K Stadler
    Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 192, New York, NY 10021, USA
    Breast Cancer Res Treat 123:581-5. 2010
    ..Major gene rearrangements involving the BRCA1 and BRCA2 genes appear to contribute little to the burden of inherited predisposition to breast and ovarian cancer in the Ashkenazim...
  21. ncbi request reprint Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations
    M Robson
    Departments of Human Genetics and Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 91:2112-7. 1999
    ..Consequently, we compared the outcomes after breast conservation therapy in Ashkenazi women with or without germline mutations in BRCA1 and/or BRCA2 (hereafter called BRCA)...
  22. pmc Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi Women
    E Comen
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Breast Cancer Res Treat 129:185-90. 2011
    ..The prevalence of BRCA founder mutations exceeds 50% in subsets of AJ women with TNBC. FH is an imperfect predictor of mutation status in this group. A significant number of mutation-associated TNBC are due to BRCA2...
  23. ncbi request reprint BRCA-associated breast cancer: absence of a characteristic immunophenotype
    M Robson
    Department of Human Genetics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer Res 58:1839-42. 1998
    ..Additional studies of BABC are required to determine the nature and implications of additional genetic abnormalities occurring in these tumors...
  24. ncbi request reprint Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation
    Noah D Kauff
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York 10021, USA
    N Engl J Med 346:1609-15. 2002
    ..We prospectively compared the effect of risk-reducing salpingo-oophorectomy with that of surveillance for ovarian cancer on the incidence of subsequent breast cancer and BRCA-related gynecologic cancers in women with BRCA mutations...
  25. ncbi request reprint Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations
    N D Kauff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
    Genet Med 3:422-5. 2001
    ..CONCLUSION: Insurance carriers reimbursed the vast majority of BRCA mutation carriers undergoing risk-reducing surgery...
  26. pmc Germline BRCA mutations denote a clinicopathologic subset of prostate cancer
    David J Gallagher
    Clinical Genetics Service, Department of Medicine, Urology Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Clin Cancer Res 16:2115-21. 2010
    ..Increased prostate cancer risk has been reported for BRCA mutation carriers, but BRCA-associated clinicopathologic features have not been clearly defined...
  27. ncbi request reprint 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...
  28. ncbi request reprint Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families
    Noah D Kauff
    Department of Gynecology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 97:1382-4. 2005
    ..66 was expected (SIR = 1.52, 95% CI = 0.02 to 8.46; P = .48). These results suggest that women from BRCA mutation-negative, site-specific breast cancer families are not at increased risk for ovarian cancer...
  29. ncbi request reprint Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
    Lauren Scheuer
    Clinical Genetics, Breast Cancer Medicine, and Developmental Chemotherapy Services, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Clin Oncol 20:1260-8. 2002
    ..To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer...
  30. pmc Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women
    E Comen
    Clinical Genetics and Breast Cancer Medicine Services, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
    Breast Cancer Res Treat 127:479-87. 2011
    ..However, the use of a genomic risk term to adjust model-derived estimates has the potential to alter individual recommendations. These observations warrant investigation to evaluate the calibration of adjusted risk estimates...
  31. ncbi request reprint The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations
    J M Satagopan
    Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
    Cancer Epidemiol Biomarkers Prev 10:467-73. 2001
    ..The risks appear to be different for carriers of BRCA1 and BRCA2 mutations...
  32. ncbi request reprint A636P is associated with early-onset colon cancer in Ashkenazi Jews
    Jose G Guillem
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Am Coll Surg 196:222-5. 2003
    ..This study seeks to characterize the proportion of individuals of Ashkenazi heritage with very early-onset colon cancer (diagnosed at age 40 or younger) that could be attributed to MSH2*1906C>G...
  33. ncbi request reprint Psychosocial predictors of BRCA counseling and testing decisions among urban African-American women
    Hayley S Thompson
    Ruttenberg Cancer Center, Mount Sinai School of Medicine, New York, New York 10029, USA
    Cancer Epidemiol Biomarkers Prev 11:1579-85. 2002
    ....
  34. ncbi request reprint 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...
  35. ncbi request reprint Hereditary ovarian cancer in Ashkenazi Jews
    Luis Robles-Díaz
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Fam Cancer 3:259-64. 2004
    ..Ovarian cancer in Ashkenazi kindreds has served as a model for the study of the histopathology of inherited ovarian cancers as well as for the study of risk reduction and screening among all women at inherited risk of ovarian cancer...
  36. ncbi request reprint BRCA mutations and risk of prostate cancer in Ashkenazi Jews
    Tomas Kirchhoff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Clin Cancer Res 10:2918-21. 2004
    ..Several series looking at the frequency of BRCA mutations in unselected patients with prostate cancer have not confirmed this finding. To clarify this issue, we conducted a large case-control study...
  37. ncbi request reprint BRCA mutations in women with ductal carcinoma in situ
    Karen Lisa Smith
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Clin Cancer Res 13:4306-10. 2007
    ..The strength of the association between ductal carcinoma in situ (DCIS) and BRCA mutations has not been defined...
  38. ncbi request reprint Risk of endometrial carcinoma associated with BRCA mutation
    D A Levine
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Gynecol Oncol 80:395-8. 2001
    ..The purpose of this study was to test the hypothesis that germline mutation of a BRCA gene is associated with an increased risk of endometrial carcinoma...
  39. ncbi request reprint Combined genetic assessment of transforming growth factor-beta signaling pathway variants may predict breast cancer risk
    Virginia G Kaklamani
    Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, Feinberg School of Medicine and Robert H Lurie Comprehensive Cancer Center, Northwestern University, 676 North St Clair Street, Chicago, IL 60611, USA
    Cancer Res 65:3454-61. 2005
    ..25-3.87). This is the first study assessing the TGF-beta signaling pathway through two common and functionally relevant TGFBR1 and TGFB1 variants. This approach may predict breast cancer risk in a large subset of the population...
  40. ncbi request reprint Effect of mammography on breast cancer risk in women with mutations in BRCA1 or BRCA2
    Deborah Goldfrank
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer Epidemiol Biomarkers Prev 15:2311-3. 2006
    ..08; P = 0.03). These findings indicate that screening mammography is unlikely to be associated with a large increase in breast cancer risk in this population...
  41. pmc A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms
    Outi Kilpivaara
    Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Nat Genet 41:455-9. 2009
    ..We found that JAK2(V617F) is preferentially acquired in cis with the predisposition allele. These data suggest that germline variation is an important contributor to MPN phenotype and predisposition...
  42. ncbi request reprint Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer
    J Teruya-Feldstein
    Department of Pathology, Memorial Sloan Kettering Cancer Center, Memorial Hospital, New York, NY 10021, USA
    Leuk Lymphoma 43:1619-26. 2002
    ....
  43. doi request reprint Survival in epithelial ovarian cancer: a multivariate analysis incorporating BRCA mutation status and platinum sensitivity
    D J Gallagher
    Department of Medicine, Memorial Sloan Kettering Cancer Center, NY, USA
    Ann Oncol 22:1127-32. 2011
    ..To further explore this, we examined the impact of prognostic factors on disease-free survival (DFS) and overall survival (OS) in patients with known BRCA mutation status...
  44. ncbi request reprint Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissue
    M A Adank
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Fam Cancer 5:337-42. 2006
    ..Documentation of familial BRCA mutations from paraffin-derived DNA of deceased patients has been limited due to reports of technical complications leading to lack of reproducibility of BRCA testing of archival material...
  45. pmc Genetic architecture of prostate cancer in the Ashkenazi Jewish population
    J Vijai
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Br J Cancer 105:864-9. 2011
    ..No study has yet investigated whether these single nucleotide polymorphisms (SNPs) are associated with prostate cancer in the Ashkenazi Jewish (AJ) population...
  46. pmc BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma
    Cristina R Ferrone
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Clin Oncol 27:433-8. 2009
    ....
  47. pmc Variants of the adiponectin and adiponectin receptor 1 genes and breast cancer risk
    Virginia G Kaklamani
    Division of Hematology Oncology, Department of Medicine, Robert H Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
    Cancer Res 68:3178-84. 2008
    ..89; P(trend) = 0.001). This is the first report of an association between functionally relevant variants of the adiponectin pathway and breast cancer risk. The results warrant further studies of the adiponectin pathway in breast cancer...
  48. ncbi request reprint Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations
    Douglas A Levine
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Clin Oncol 21:4222-7. 2003
    ....
  49. ncbi request reprint The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds
    Rina Siddiqui
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Fam Cancer 4:177-81. 2005
    ..While mutations in p53 account for a proportion of patients with LFS/LFL, future studies are needed to determine if other genes are responsible for LFS/LFL families not carrying germline p53 mutations...
  50. ncbi request reprint MSH6 germline mutations are rare in colorectal cancer families
    Paolo Peterlongo
    Cell Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Int J Cancer 107:571-9. 2003
    ..Altogether, our results indicate that disease-causing germline mutations of MSH6 are rare in HNPCC and HNPCC-like families...
  51. ncbi request reprint A636P testing in Ashkenazi Jews
    Jose G Guillem
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Fam Cancer 3:223-7. 2004
    ..In addition, we summarize our initial experience with a prospective A636P testing protocol aimed at Ashkenazi Jewish patients at high or intermediate risk for harboring the A636P mutation...
  52. ncbi request reprint Type I transforming growth factor beta receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract
    B Pasche
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer Res 58:2727-32. 1998
    ..The clinical and biological significance of TbetaR-I(6A) homozygosity needs to be further investigated...
  53. ncbi request reprint Clinical practice. Management of an inherited predisposition to breast cancer
    Mark Robson
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York 10021, USA
    N Engl J Med 357:154-62. 2007
  54. pmc Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management
    Jose G Guillem
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Ann Surg 245:560-5. 2007
    ..This study summarizes our initial experience with prospective, single-amplicon (mutation-specific) A636P testing in Ashkenazi Jewish patients at risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)...
  55. pmc Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study
    Noah D Kauff
    Clinical Genetics and Gynecology Services, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 192, New York, NY 10021, USA
    J Clin Oncol 26:1331-7. 2008
    ....
  56. ncbi request reprint ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes
    Jose G Guillem
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Clin Oncol 24:4642-60. 2006
    ....
  57. ncbi request reprint Increased frequency of disease-causing MYH mutations in colon cancer families
    Paolo Peterlongo
    Cell Biology Program, Memorial Sloan Kettering Cancer Center New York, NY, USA
    Carcinogenesis 27:2243-9. 2006
    ..These data further support a model in which low-penetrance alleles are enriched in MMR gene mutation-negative CRC families...
  58. ncbi request reprint ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes
    Jose G Guillem
    Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Room C 1077, New York, New York 10021, USA
    Ann Surg Oncol 13:1296-321. 2006
    ..Clinical interventions have been formulated for mutation carriers within affected families. The primary interventions for mutation carriers of highly penetrant syndromes are surgical...
  59. ncbi request reprint Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based series
    Mark Robson
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer 103:44-51. 2005
    ..The current study evaluates the appropriateness of breast-conserving therapy (BCT) in women with BRCA mutations...
  60. ncbi request reprint Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia
    Mark E Robson
    Clinical Genetics and Gastrointestinal Oncology Services, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Clin Cancer Res 10:1250-4. 2004
    ..Preliminary correlations between the site of mutation and the clinical phenotype have been proposed, but the strength of these associations is not defined...
  61. pmc Genome-wide association studies of cancer
    Zsofia K Stadler
    Clinical Genetics Service andthe Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, NY, NY 10021, USA
    J Clin Oncol 28:4255-67. 2010
    ..To date, however, the clinical utility of GWAS-derived risk markers remains limited...
  62. doi request reprint Diagnosing hereditary colorectal cancer
    David J Gallagher
    Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Clin Colorectal Cancer 9:205-11. 2010
    ..While these associations have helped to identify potentially important pathways in CRC carcinogenesis, at the current time, the clinical use of such genetic risk variants in colon cancer risk stratification remains limited...
  63. ncbi request reprint Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers
    Kenneth Offit
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Clin Cancer Res 8:3813-9. 2002
    ..We next sought to determine the frequency of ATM variants in patients with Hodgkin's lymphoma, regardless of coexisting BC, compared with healthy volunteers...
  64. doi request reprint The 6q22.33 locus and breast cancer susceptibility
    Tomas Kirchhoff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
    Cancer Epidemiol Biomarkers Prev 18:2468-75. 2009
    ..Further functional studies of candidate genes are in progress, and a large replication analysis is being completed as part of an international consortium...
  65. doi request reprint cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation
    Liying Zhang
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Mutat Res 663:84-9. 2009
    ..These results support the conclusion that BRCA2 IVS4-12del5 is a deleterious mutation. This study will shed light on the reclassification of intronic variants that do not disrupt the 5' and 3' splice sites (the GU-AG rule)...
  66. ncbi request reprint Ovarian carcinoma screening in women at intermediate risk: impact on quality of life and need for invasive follow-up
    Noah D Kauff
    Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer 104:314-20. 2005
    ..Limited information is available regarding the impact of this approach on either quality of life (QOL) or need for invasive follow-up in this group of women...
  67. pmc A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing
    Liying Zhang
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
    J Mol Diagn 11:176-81. 2009
    ..We show that pyrosequencing is a rapid and reliable method that serves as an excellent platform for BRCA founder mutation analysis, especially when only paraffin-embedded tissues are available...
  68. ncbi request reprint Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations
    Jaya M Satagopan
    Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Clin Cancer Res 8:3776-81. 2002
    ..To address this, we have used a case-control design that does not involve familial aggregation to estimate the lifetime penetrance of ovarian cancer due to BRCA1 and BRCA2 mutations...
  69. ncbi request reprint Considerations in genetic counseling for inherited breast cancer predisposition
    Mark E Robson
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Semin Radiat Oncol 12:362-70. 2002
    ..Genetic testing may play an important role in refining risk assessment, identifying individuals at risk before cancer has developed, and relieving anxiety in family members who have not inherited the predisposition...
  70. ncbi request reprint Quality of life in women at risk for ovarian cancer who have undergone risk-reducing oophorectomy
    Mark Robson
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Gynecol Oncol 89:281-7. 2003
    ..We studied women who had undergone RRSO to assess quality of life after the procedure...
  71. ncbi request reprint Chromosomal and gene amplification in diffuse large B-cell lymphoma
    P H Rao
    Cell Biology Program and the Departments of Pathology and Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Blood 92:234-40. 1998
    ..These data show, for the first time, that amplification of chromosomal regions and genes is a frequent phenomenon in DLBL and demonstrates their potential significance in lymphomagenesis...
  72. ncbi request reprint BCL-6 protein is expressed in germinal-center B cells
    G Cattoretti
    Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Blood 86:45-53. 1995
    ..Because DLCL derive from germinal-center B cells, deregulated BCL-6 expression may contribute to lymphomagenesis by preventing postgerminal center differentiation...
  73. ncbi request reprint Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping
    Nandita Mitra
    Department of Epidemiology and Biostatistics, and Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer Res 64:8116-25. 2004
    ..This work demonstrates the power of the LD mapping approach in an isolated population and its general applicability to the identification of novel cancer-causing genes...
  74. pmc Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer
    Robert J Klein
    Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Cancer Prev Res (Phila) 3:611-9. 2010
    ..874 versus 0.866), providing proof in principle to clinical application for our findings...
  75. doi request reprint The signatures of autozygosity among patients with colorectal cancer
    Manny D Bacolod
    Department of Microbiology, Weill Medical College of Cornell University, New York, NY 10021, USA
    Cancer Res 68:2610-21. 2008
    ....
  76. pmc Frequent somatic hypermutation of the 5' noncoding region of the BCL6 gene in B-cell lymphoma
    A Migliazza
    Department of Pathology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 92:12520-4. 1995
    ..These alterations identify a mechanism of genetic instability in malignant B cells and may have been selected during lymphomagenesis for their role in altering BCL6 expression...
  77. ncbi request reprint Leukemic differentiation of a mediastinal germ cell tumor
    R S Chaganti
    Laboratory of Cancer Genetics and Cytogenetics, Sloan Kettering Institute, New York, New York
    Genes Chromosomes Cancer 1:83-7. 1989
    ....
  78. ncbi request reprint Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms
    Jinru Shia
    Department of Pathology, Memorial Sloan Kettering, Cancer Center, New York, NY 10021, USA
    Am J Surg Pathol 29:96-104. 2005
    ....
  79. ncbi request reprint Evaluation of germline PTEN mutations in endometrial cancer patients
    Destin Black
    Gynecology and Breast Research Laboratory, Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Gynecol Oncol 96:21-4. 2005
    ..The aim of this study was to test whether a substantial proportion of endometrial cancers are associated with germline mutations of the PTEN gene, not necessarily in association with clinically overt Cowden syndrome...
  80. pmc Susceptibility loci associated with prostate cancer progression and mortality
    David J Gallagher
    Department of Medicine, Clinical Genetics Service, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, Albert Einstein College of Medicine, New York, New York 10065, USA
    Clin Cancer Res 16:2819-32. 2010
    ..Prostate cancer is a heterogeneous disease with a variable natural history that is not accurately predicted by currently used prognostic tools...
  81. ncbi request reprint The genetics of familial lymphomas
    Rina Siddiqui
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Curr Oncol Rep 6:380-7. 2004
    ..This paper reviews the genetics of familial lymphoma, focusing on germline susceptibilities to lymphoma as well as germline susceptibilities to environmental exposures that have been linked to lymphoma...
  82. ncbi request reprint Increased progesterone receptor expression in benign epithelium of BRCA1-related breast cancers
    Tari A King
    Departments of Surgery, Pathology, Epidemiology and Biostatistics, and Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Cancer Res 64:5051-3. 2004
    ..We conclude that deregulation of progesterone receptor expression, as a result of BRCA1 haploinsufficiency, may represent an early event in BRCA1-linked breast tumorigenesis...
  83. ncbi request reprint Genome-wide association studies of cancer: principles and potential utility
    Zsofia K Stadler
    Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Oncology (Williston Park) 24:629-37. 2010
    ....
  84. ncbi request reprint Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer
    Jinru Shia
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10002, USA
    Am J Surg Pathol 27:1407-17. 2003
    ..Using a stepwise logistic regression model, a formula was generated that could be used to calculate the probability of a colorectal carcinoma being MSI-H based on morphologic features...
  85. ncbi request reprint Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations
    Noah D Kauff
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cancer 97:1601-8. 2003
    ....
  86. ncbi request reprint REL proto-oncogene is frequently amplified in extranodal diffuse large cell lymphoma
    J Houldsworth
    Cell Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Blood 87:25-9. 1996
    ..This study shows the usefulness of the CGH technique in identifying chromosomal regions overrepresented in tumors that can point to amplified genes and may be correlated with clinical features of the disease...
  87. pmc A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment
    Mark E Robson
    Research Institute of McGill University Health Centre, Cancer Prevention Centre, McGill University, Montreal, Quebec, Canada
    Breast Cancer Res 6:R8-R17. 2004
    ..The prognostic significance of germline mutations in BRCA1 and BRCA2 in women with breast cancer remains unclear. A combined analysis was performed to address this uncertainty...
  88. ncbi request reprint Estrogen receptor genotypes and haplotypes associated with breast cancer risk
    Bert Gold
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, Maryland, USA
    Cancer Res 64:8891-900. 2004
    ..Genetic epidemiology study replication and functional assays of the haplotypes should permit a better understanding of the role of steroid receptor genetic variants and breast cancer risk...
  89. ncbi request reprint Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study
    Andrea Eisen
    Toronto Sunnybrook Regional Cancer Center, Toronto, ON, Canada
    J Clin Oncol 23:7491-6. 2005
    ....
  90. ncbi request reprint BLM heterozygosity and the risk of colorectal cancer
    Stephen B Gruber
    Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, MI 48109, USA
    Science 297:2013. 2002
  91. ncbi request reprint Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Steven A Narod
    The Centre for Research on Women s Health, University of Toronto, 790 Bay Street, Toronto, Ontario M5G 1N8, Canada
    J Natl Cancer Inst 94:1773-9. 2002
    ..We examined whether this association is seen in women at high risk of breast cancer because they carry a mutation in one of two breast cancer susceptibility genes, BRCA1 and BRCA2...
  92. ncbi request reprint TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies
    Virginia G Kaklamani
    Cancer Genetics Program, Division of Hematology Oncology, Evanston Northwestern Healthcare, Chicago, IL, USA
    J Clin Oncol 21:3236-43. 2003
    ..This study was undertaken to analyze all published case-control studies on TGFBR1*6A and cancer and determine whether TGFBR1*6A is associated with cancer...
  93. ncbi request reprint Modeling genetic risk of breast cancer
    Noah D Kauff
    JAMA 297:2637-9. 2007
  94. ncbi request reprint Hereditary cancer predisposition syndromes
    Judy E Garber
    Dana Farber Cancer Institute, 44 Binney Street, SM 209, Boston, MA 02115, USA
    J Clin Oncol 23:276-92. 2005
    ..The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided...
  95. ncbi request reprint Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population
    Avraham Shaag
    Department of Medicine Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    Hum Mol Genet 14:555-63. 2005
    ....
  96. 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...
  97. ncbi request reprint Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, Women s College Hospital, University of Toronto, Room 750, 790 Bay Street, 7th Floor, Toronto, ON M5G 1N8, Canada
    Breast Cancer Res Treat 105:221-8. 2007
    ..Nonetheless, BRCA mutation carriers opting for a prophylactic oophorectomy as a breast and/or ovarian cancer risk-reducing strategy should complete childbearing prior to age 40 when this prevention modality is most effective...
  98. ncbi request reprint Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study
    John R McLaughlin
    Samuel Lunenfeld Research Institute, Toronto, ON, Canada
    Lancet Oncol 8:26-34. 2007
    ..We aimed to assess the effect of these three risk factors, and of tubal ligation, on the risk of ovarian cancer in women who carry a mutation in the BRCA1 or BRCA2 genes...
  99. ncbi request reprint BRCA mutation frequency and penetrance: new data, old debate
    Kenneth Offit
    J Natl Cancer Inst 98:1675-7. 2006
  100. ncbi request reprint Network modeling links breast cancer susceptibility and centrosome dysfunction
    Miguel Angel Pujana
    Center for Cancer Systems Biology CCSB, Dana Farber Cancer Institute and Department of Genetics, Harvard Medical School, 44 Binney St, Boston, Massachusetts 02115, USA
    Nat Genet 39:1338-49. 2007
    ..Our network modeling strategy should be useful for the discovery of additional cancer-associated genes...
  101. 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...