Research Topics
Genomes and GenesSpecies | K OffitSummaryAffiliation: Memorial Sloan-Kettering Cancer Center Country: USA Publications
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Detail Information
Publications
BRCA1 and BRCA2 germline mutations in lymphoma patientsOrit 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...
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 BRCA1/2Anna 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...
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriersEitan 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....- No major association between TGFBR1*6A and prostate cancerVirginia 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... - 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 studiesLutecia 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... - Analysis of genetic variation in Ashkenazi Jews by high density SNP genotypingAdam 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... - Frequency of CHEK2*1100delC in New York breast cancer cases and controlsKenneth 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... - Personalized medicine: new genomics, old lessonsKenneth 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.... - Ethical and legal aspects of cancer genetic testingKenneth 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... - 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 - Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicineKenneth Offit
Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
JAMA 296:2727-30. 2006 - Cancer genetic testing and assisted reproductionKenneth 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... - Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemiaKenneth 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... - The "duty to warn" a patient's family members about hereditary disease risksKenneth Offit
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
JAMA 292:1469-73. 2004.... 
Ethicolegal aspects of cancer geneticsKenneth 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...- Localization of breast cancer susceptibility loci by genome-wide SNP linkage disequilibrium mappingNathan 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... - BRCA-associated breast cancer in young womenM 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... - Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer familiesZsofia 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... - Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutationsM 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)... - Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi WomenE 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... - BRCA-associated breast cancer: absence of a characteristic immunophenotypeM 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... - Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutationNoah 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... - Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutationsN 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... - Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer familiesNoah 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... - Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesisTari 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... - Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriersLauren 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... - Germline BRCA mutations denote a clinicopathologic subset of prostate cancerDavid 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... - Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative womenE 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... - The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutationsJ 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... - Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancerTomas 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... - Psychosocial predictors of BRCA counseling and testing decisions among urban African-American womenHayley S Thompson
Ruttenberg Cancer Center, Mount Sinai School of Medicine, New York, New York 10029, USA
Cancer Epidemiol Biomarkers Prev 11:1579-85. 2002.... - A636P is associated with early-onset colon cancer in Ashkenazi JewsJose 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... - BRCA mutations in women with ductal carcinoma in situKaren 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... - BRCA mutations and risk of prostate cancer in Ashkenazi JewsTomas 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... - Hereditary ovarian cancer in Ashkenazi JewsLuis 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... - Risk of endometrial carcinoma associated with BRCA mutationD 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... - A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasmsOuti 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... - Combined genetic assessment of transforming growth factor-beta signaling pathway variants may predict breast cancer riskVirginia 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... - Effect of mammography on breast cancer risk in women with mutations in BRCA1 or BRCA2Deborah 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... - Genetic architecture of prostate cancer in the Ashkenazi Jewish populationJ 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... - Survival in epithelial ovarian cancer: a multivariate analysis incorporating BRCA mutation status and platinum sensitivityD 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... - Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissueM 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... - Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancerJ Teruya-Feldstein
Department of Pathology, Memorial Sloan Kettering Cancer Center, Memorial Hospital, New York, NY 10021, USA
Leuk Lymphoma 43:1619-26. 2002.... - A636P testing in Ashkenazi JewsJose 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... - Fallopian tube and primary peritoneal carcinomas associated with BRCA mutationsDouglas A Levine
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Clin Oncol 21:4222-7. 2003.... - The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindredsRina 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... - Variants of the adiponectin and adiponectin receptor 1 genes and breast cancer riskVirginia 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... - BRCA germline mutations in Jewish patients with pancreatic adenocarcinomaCristina R Ferrone
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Clin Oncol 27:433-8. 2009.... - MSH6 germline mutations are rare in colorectal cancer familiesPaolo 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... - Type I transforming growth factor beta receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tractB 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... - Diagnosing hereditary colorectal cancerDavid 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... - ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromesJose 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... - ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromesJose G Guillem
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Clin Oncol 24:4642-60. 2006.... - Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical managementJose 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)... - Quality of life in women at risk for ovarian cancer who have undergone risk-reducing oophorectomyMark 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... - Clinical practice. Management of an inherited predisposition to breast cancerMark Robson
Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York 10021, USA
N Engl J Med 357:154-62. 2007 - Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancersKenneth 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... - Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutationsJaya 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... - Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective studyNoah 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.... - The 6q22.33 locus and breast cancer susceptibilityTomas 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... - A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencingLiying 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... - Considerations in genetic counseling for inherited breast cancer predispositionMark 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... - cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutationLiying 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)... - Increased frequency of disease-causing MYH mutations in colon cancer familiesPaolo 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... - Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based seriesMark 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... - Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagiaMark 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... - Ovarian carcinoma screening in women at intermediate risk: impact on quality of life and need for invasive follow-upNoah 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... - Genome-wide association studies of cancerZsofia 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... - Chromosomal and gene amplification in diffuse large B-cell lymphomaP 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... - BCL-6 protein is expressed in germinal-center B cellsG 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... - Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancerRobert 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... - The signatures of autozygosity among patients with colorectal cancerManny D Bacolod
Department of Microbiology, Weill Medical College of Cornell University, New York, NY 10021, USA
Cancer Res 68:2610-21. 2008.... - Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mappingNandita 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... - Leukemic differentiation of a mediastinal germ cell tumorR S Chaganti
Laboratory of Cancer Genetics and Cytogenetics, Sloan Kettering Institute, New York, New York
Genes Chromosomes Cancer 1:83-7. 1989.... - Frequent somatic hypermutation of the 5' noncoding region of the BCL6 gene in B-cell lymphomaA 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... - Susceptibility loci associated with prostate cancer progression and mortalityDavid 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... - Evaluation of germline PTEN mutations in endometrial cancer patientsDestin 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... - Genome-wide association studies of cancer: principles and potential utilityZsofia 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.... - Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasmsJinru Shia
Department of Pathology, Memorial Sloan Kettering, Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 29:96-104. 2005.... - Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutationsNoah D Kauff
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
Cancer 97:1601-8. 2003..This finding suggests that hereditary breast carcinoma has a preinvasive phase that may be detectable with aggressive surveillance... - Increased progesterone receptor expression in benign epithelium of BRCA1-related breast cancersTari 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... - The genetics of familial lymphomasRina 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... - Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancerJinru 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... - REL proto-oncogene is frequently amplified in extranodal diffuse large cell lymphomaJ 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... - Estrogen receptor genotypes and haplotypes associated with breast cancer riskBert 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... - BLM heterozygosity and the risk of colorectal cancerStephen B Gruber
Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, MI 48109, USA
Science 297:2013. 2002 - Prediction of germline mutations and cancer risk in the Lynch syndromeSining Chen
Department of Environmental Health Sciences, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA
JAMA 296:1479-87. 2006..Current clinical guidelines are effective but limited by applicability and cost... - Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish populationAvraham Shaag
Department of Medicine Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
Hum Mol Genet 14:555-63. 2005.... - MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent mannerGareth L Bond
The Institute for Advanced Study, Princeton, New Jersey 08540, USA
Cancer Res 66:5104-10. 2006.... - BRCA mutation frequency and penetrance: new data, old debateKenneth Offit
J Natl Cancer Inst 98:1675-7. 2006 - Hereditary cancer predisposition syndromesJudy 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... - RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studiesAntonis 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... - Prevention and management of hereditary breast cancerSteven A Narod
Centre for Research in Women's Health, University of Toronto, 790 Bay St, Toronto, Ontario M5G 1N8, Canada
J Clin Oncol 23:1656-63. 2005 - Modeling genetic risk of breast cancerNoah D Kauff
JAMA 297:2637-9. 2007 - Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendationsLois B Travis
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Natl Cancer Inst 98:15-25. 2006..These research areas warrant high priority to promote NCI's goal of eliminating pain and suffering related to cancer... - Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an updateJacek Gronwald
Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical Academy, Szczecin, Poland
Int J Cancer 118:2281-4. 2006..83; 95%CI, 0.24-2.89) but this subgroup was small. In contrast, a strong protective effect of tamoxifen was apparent among women who were premenopausal or who had undergone natural menopause (OR = 0.44; 95% CI, 0.27-0.65)... - AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 studyFergus 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... - Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control studyAndrea Eisen
Toronto Sunnybrook Regional Cancer Center, Toronto, ON, Canada
J Clin Oncol 23:7491-6. 2005.... - A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatmentMark 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... - Network modeling links breast cancer susceptibility and centrosome dysfunctionMiguel 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... - Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriersJoanne 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...