Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

TR Rebbeck; N Mitra; F Wan; OM Sinilnikova; S Healey; L McGuffog; G Chenevix-Trench; DF Easton; AC Antoniou; KL Nathanson; Y Laitman; A Kushnir; S Paluch-Shimon; R Berger; J Zidan; E Friedman; H Ehrencrona; M Stenmark-Askmalm; Z Einbeigi; N Loman; K Harbst; J Rantala; B Melin; D Huo; OI Olopade; J Seldon; PA Ganz; RL Nussbaum; SB Chan; K Odunsi; SA Gayther; SM Domchek; BK Arun; KH Lu; G Mitchell; BY Karlan; C Walsh; J Lester; AK Godwin; H Pathak; E Ross; MB Daly; AS Whittemore; EM John; A Miron; MB Terry; WK Chung; DE Goldgar; SS Buys; R Janavičius; L Tihomirova; N Tung; CM Dorfling; EJ Van Rensburg; L Steele; SL Neuhausen; YC Ding; B Ejlertsen; AM Gerdes; TVO Hansen; T Ramon Y Cajal; A Osorio; J Benitez; J Godino; MI Tejada; M Duran; JN Weitzel; KA Bobolis; SR Sand; A Fontaine; A Savarese; B Pasini; B Peissel; B Bonanni; D Zaffaroni; F Vignolo-Lutati; G Scuvera; G Giannini; L Bernard; M Genuardi; P Radice; R Dolcetti; S Manoukian; V Pensotti; V Gismondi; D Yannoukakos; F Fostira; J Garber; D Torres; MU Rashid; U Hamann; S Peock; D Frost; R Platte; DG Evans; R Eeles; R Davidson; D Eccles; T Cole; J Cook

Journal article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, G Chenevix-Trench, DF Easton, AC Antoniou, KL Nathanson, Y Laitman, A Kushnir, S Paluch-Shimon, R Berger, J Zidan, E Friedman, H Ehrencrona, M Stenmark-Askmalm, Z Einbeigi, N Loman Show all

JAMA Journal of the American Medical Association | Published : 2015

DOI: 10.1001/jama.2014.5985

Abstract

Importance: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. Objective: To identify mutation-specific cancer risks for carriers of BRCA1/2. Design, Setting, and Participants: Observational study ofwomen whowere ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19 581 carriers of BRCA1 mutations and 11 900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents.We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position.We also estimated RHR, the rati..

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University of Melbourne Researchers

Riccardo Dolcetti Author

Kelly Phillips Author

Related Projects (2)

THE KATHLEEN CUNNINGHAM FOUNDATION CONSORTIUM FOR RESEARCH INTO FAMILIAL BREAST CANCER

REDUCING THE BURDEN OF BREAST CANCER FOR AUSTRALIAN WOMEN AND THEIR FAMILIES

Grants

Awarded by National Cancer Institute

Funding Acknowledgements

Dr Antoniou and the CIMBA data management are funded by Cancer Research UK. Dr Easton is a Principal Research Fellow of Cancer Research UK. Dr Rebbeck is supported by R01-CA083855, R01-CA102776, and P50-CA083638 from the National Institutes of Health (NIH). Dr Rebbeck, Dr Nathanson, Ms Friebel, and Dr Domchek are supported by the Basser Research Center at the University of Pennsylvania. Dr Nathanson is supported by the Breast Cancer Research Foundation. Drs Domchek and Nathanson are supported by the Rooney Family Foundation. Dr Poppe is supported by R01-CA112520 from NIH. Cancer Research UK provided financial support for this work. Dr Antoniou is a Senior Cancer Research UK Cancer Research Fellow. Dr Phillips is a National Breast Cancer Foundation (Australia) Practitioner Fellow.