Journal ArticleDOI
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.
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TLDR
Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset, and risks appear to be increasing with time.Abstract:
Risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2. We selected 1008 index cases, regardless of family history of cancer, and carried out molecular analysis across entire families. The lifetime risk of breast cancer among female mutation carriers was 82%, similar to risks in families with many cases. Risks appear to be increasing with time: Breast cancer risk by age 50 among mutation carriers born before 1940 was 24%, but among those born after 1940 it was 67%. Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset.read more
Citations
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Cell-cycle checkpoints and cancer
Michael B. Kastan,Jiri Bartek +1 more
TL;DR: All life on earth must cope with constant exposure to DNA-damaging agents such as the Sun's radiation, and how cells respond to DNA damage are critical determinants of whether that individual will develop cancer.
Journal ArticleDOI
Meta-analysis of BRCA1 and BRCA2 penetrance
Sining Chen,Giovanni Parmigiani +1 more
TL;DR: A set of risk estimates for BRCa1 and BRCA2 mutation carriers that can be used by counselors and clinicians who are interested in advising patients based on a comprehensive set of studies rather than one specific study are provided.
Journal ArticleDOI
Gene–environment interactions in psychiatry: joining forces with neuroscience
TL;DR: Opportunities and challenges in the collaboration between psychiatry, epidemiology and neuroscience in studying gene–environment interactions in psychiatry are discussed.
Journal ArticleDOI
Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality
Susan M. Domchek,Tara M. Friebel,Christian F. Singer,D. Gareth Evans,Henry T. Lynch,Claudine Isaacs,Judy Garber,Susan L. Neuhausen,Ellen T. Matloff,Rosalind A. Eeles,Gabriella Pichert,Laura Van T'veer,Nadine Tung,Jeffrey N. Weitzel,Fergus J. Couch,Wendy S. Rubinstein,Wendy S. Rubinstein,Patricia A. Ganz,Mary B. Daly,Olufunmilayo I. Olopade,Gail E. Tomlinson,Joellen M. Schildkraut,Joanne L. Blum,Timothy R. Rebbeck +23 more
TL;DR: Among a cohort of women with BRCa1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer, first diagnosis of breastcancer, all-cause mortality, breast cancer-specific mortality, and ovarian cancer- specific mortality.
Journal ArticleDOI
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer
Colin C. Pritchard,Joaquin Mateo,Michael Walsh,Navonil De Sarkar,Wassim Abida,Himisha Beltran,Andrea Garofalo,Roman Gulati,Suzanne Carreira,Rosalind A. Eeles,Olivier Elemento,Mark A. Rubin,Dan R. Robinson,Robert J. Lonigro,Maha Hussain,Arul M. Chinnaiyan,Arul M. Chinnaiyan,Jake Vinson,Julie Filipenko,Levi A. Garraway,Mary-Ellen Taplin,Saud H. AlDubayan,G. Celine Han,Mallory Beightol,Colm Morrissey,Belinda Nghiem,Heather H. Cheng,Bruce Montgomery,Tom Walsh,Silvia Casadei,Silvia Casadei,Michael F. Berger,Liying Zhang,Ahmet Zehir,Joseph Vijai,Howard I. Scher,Charles L. Sawyers,Nikolaus Schultz,Philip W. Kantoff,David B. Solit,Mark E. Robson,Eliezer M. Van Allen,Kenneth Offit,Johann S. de Bono,Peter S. Nelson,Peter S. Nelson +45 more
TL;DR: The frequency of germline mutations in DNA-repair genes among men with metastatic prostate cancer significantly exceeded the prevalence of 4.6% among 499 men with localized prostate cancer and 2.7% in the Exome Aggregation Consortium, which includes 53,105 persons without a known cancer diagnosis.
References
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Journal ArticleDOI
The Statistical Analysis of Failure Time Data.
Journal ArticleDOI
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies
Antonis C. Antoniou,Paul D.P. Pharoah,Steven A. Narod,Harvey A. Risch,Jorunn E. Eyfjord,John L. Hopper,Niklas Loman,Håkan Olsson,Oskar T. Johannsson,Åke Borg,Barbara Pasini,Paolo Radice,Siranoush Manoukian,Diana Eccles,Nelson L.S. Tang,E. Olah,Hoda Anton-Culver,Ellen Warner,Jan Lubinski,Jacek Gronwald,Bohdan Górski,Hrafn Tulinius,Steinunn Thorlacius,Hannaleena Eerola,Heli Nevanlinna,Kirsi Syrjäkoski,Olli Kallioniemi,Deborah J. Thompson,Christopher H. Evans,Julian Peto,Julian Peto,Fiona Lalloo,D G R Evans,Douglas F. Easton +33 more
TL;DR: Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age and for variation in risk by mutation position for both genes, and some evidence for a reduction in risk in women from earlier birth cohorts is found.
Journal ArticleDOI
Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
D Ford,Douglas F. Easton,Michael R. Stratton,Steven A. Narod,David E. Goldgar,Peter Devilee,D. T. Bishop,Barbara L. Weber,Gilbert M. Lenoir,Jenny Chang-Claude,Hagay Sobol,M D Teare,Jeffery P. Struewing,Adalgeir Arason,Siegfried Scherneck,Julian Peto,Timothy R. Rebbeck,Patricia N. Tonin,Susan L. Neuhausen,Rosa B. Barkardottir,Jorunn E. Eyfjord,Henry T. Lynch,Bruce A.J. Ponder,Simon A. Gayther,J.M. Birch,Annika Lindblom,Dominique Stoppa-Lyonnet,Y. J. Bignon,Åke Borg,U Hamann,Neva E. Haites,Rodney J. Scott,Christine Maugard,Hans F. A. Vasen,Susanne Seitz,Lisa A. Cannon-Albright,Andrew Craig Schofield,Moraima Zelada-Hedman +37 more
TL;DR: The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in bRCA2 carriers <50 years of age.
Journal ArticleDOI
The Risk of Cancer Associated with Specific Mutations of BRCA1 and BRCA2 among Ashkenazi Jews
Jeffery P. Struewing,Patricia Hartge,Sholom Wacholder,Sonya M. Baker,Martha Berlin,Mary McAdams,Michelle M. Timmerman,Lawrence C. Brody,Margaret A. Tucker +8 more
TL;DR: The risks of breast cancer may be overestimated, but they fall well below previous estimates based on subjects from high-risk families.
Journal ArticleDOI
Prophylactic Oophorectomy in Carriers of BRCA1 or BRCA2 Mutations
Timothy R. Rebbeck,Henry T. Lynch,Susan L. Neuhausen,Steven A. Narod,Laura J. van't Veer,Judy Garber,Gareth Evans,Claudine Isaacs,Mary B. Daly,Ellen T. Matloff,Olufunmilayo I. Olopade,Barbara L. Weber +11 more
TL;DR: Bilateral prophylactic oophorectomy reduces the risk of coelomic epithelial cancer and breast cancer in women with BRCA1 or BRCa2 mutations.
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