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Meta-Analysis of BRCA1 and BRCA2 Penetrance
Sining Chen, Giovanni Parmigiani. Journal of Clinical Oncology. Vol 25, No 11, pp. 1329-1333. April, 2007.
Meta-analysis of 10 studies looking at penetrance (lifetime risk) for breast and ovarian cancer in BRCA mutation carriers.
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations
Jaya M. Satagopan, Kenneth Offit, William Foulkes, Mark E. Robson, Sholom Wacholder, Christine M. Eng, Stephen E. Karp and Colin B. Begg. Cancer Epidemiology Biomarkers & Prevention. Volume 10: p. 467-473, May 2001. (Full text)
Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
Rebbeck TR, Mitra N, Wan F, et al., Journal of the American Medical Association (2015) Vol. 313, No. 13, pp. 1347-61.
Breast-Cancer Risk in Families with Mutations in PALB2
Antoniou, A.C., et al., ” New England Journal of Medicine, Volume 371, No. 6: August 7, 2014, p. 497-506.
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers
Leedom, TP, LaDuca, H, McFarland, R, Li, S, Dolinsky, JS, and Chao, EC, Cancer Genetics, Volume 209, Issue 9, Pages 403–407, 2016.
ATM Mutations in Cancer: Therapeutic Implications
Choi M, Kipps T, Kurzrock R, Molecular Cancer Therapeutics, Vol. 15, No. 8, pp. 1781-91, 2016.
Modifiers of Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Systematic Review and Meta-Analysis
Friebel, T, Domchek, SM and Rebbeck, TR, Journal of the National Cancer Institute, Vol. 106, No. 6, (2014)
Earlier age of onset of BRCA mutation-related cancers in subsequent generations
Jennifer K. Litton MD, Kaylene Ready MS, CGC, Huiqin Chen MS, Angelica Gutierrez-Barrera MS, Carol J. Etzel PhD, Funda Meric-Bernstam MD, Ana M. Gonzalez-Angulo MD, Huong Le-Petross MD, Karen Lu MD, Gabriel N. Hortobagyi MD, Banu K. Arun MD. Cancer. Early online publication September 12, 2011.
Modification of BRCA1- and BRCA2: associated breast cancer risk by AIB1 genotypeand reproductive history
Timothy R. Rebbeck, Yiting Wang, Philip W. Kantoff, Krishna Krithivas, Susan L. Neuhausen, Andrew K. Godwin, Mary B. Daly,Steven A. Narod, Jean-Sebastian Brunet, Daniel Vesprini, Judy E. Garber, Henry T. Lynch, Barbara L. Weber and Myles Brown. Cancer Research. Volume 61: p. 5420-5424, July 2001.
BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
Victoria M Basham, Julian M Lipscombe, Joanna M Ward, Simon A Gayther, Bruce AJ Ponder, Douglas F Easton, and Paul DP Pharoah, Breast Cancer Res. 2002; 4(1)
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
Thomas S. Frank, Amie M. Deffenbaugh, Julia E. Reid, Mark Hulick, Brian E. Ward, Beth Lingenfelter, Kathi L. Gumpper, Thomas Scholl, Sean V. Tavtigian, Dmitry R. Pruss, Gregory C. Critchfield. Journal of Clinical Oncology. Volume 20, Issue 6: p. 1480-1490, March 2002.
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
Marcia S. Brose, Timothy R. Rebbeck, Kathleen A. Calzone, Jill E. Stopfer, Katherine L. Nathanson, Barbara L. Weber. Journal of the National Cancer Institute. Volume 94, Number 18: p. 1365-1372, September 18, 2002.
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
A. Antoniou, P.D.P. Pharoah2, S. Narod3, H.A. Risch, J.E. Eyfjord, J.L. Hopper, N. Loman, H. Olsson, O. Johannsson, Å. Borg, B. Pasini, P. Radice, S. Manoukian, D.M. Eccles, N. Tang, E. Olah, H. Anton-Culver, E. Warner, J. Lubinski, J. Gronwald, B. Gorski, H. Tulinius, S. Thorlacius, H. Eerola, H. Nevanlinna, K. Syrjäkoski, O.-P. Kallioniemi, D. Thompson, C. Evans, J. Peto, F. Lalloo, D.G. Evans and D.F. Easton
American Journal of Human Genetics, Volume 72, Issue 5, May 2003, Pages 1117-1130
Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States)
Modugno F, Moslehi R, Ness RB, Nelson DB, Belle S, Kant JA, Wheeler JE, Wonderlick A, Fishman D, Karlan B, Risch H, Cramer DW, Dube MP, Narod SA. Cancer Causes Control. Volume 5: p. 439-46, June 2003. (Pubmed abstract)
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.
King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group.
Departments of Medicine and Genome Sciences, University of Washington, Seattle. Science. 2003 Oct 24;302(5645):643-6.
Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers
Kelly Metcalfe, Henry T. Lynch, Parviz Ghadirian, Nadine Tung, Ivo Olivotto, Ellen Warner, Olufunmilayo I. Olopade, Andrea Eisen, Barbara Weber, Jane McLennan, Ping Sun, William D. Foulkes, Steven A. Narod.
Journal of Clinical Oncology, Vol 22, No 12 (June 15), 2004: pp. 2328-2335
Smoking and the risk of breast cancer among carriers of BRCA mutations
Parviz Ghadirian, Jan Lubinski , Henry Lynch , Susan L. Neuhausen , Barbara Weber , Claudine Isaacs , Ruth-Gershoni Baruch, Susan Randall, Peter Ainsworth, Eitan Freidman, Douglas Horsman, Patricia Tonin, William D. Foulkes, Nadine Tung, Ping Sun, Steven A. Narod. International Journal of Cancer. Volume 110, Issue 3 , p. 413-416, June 2004.
Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Jernstrom, H, Lubinski, J., Lynch, P., et al. Journal of the National Cancer Institute. Volume 96, No. 14, 1094-1098. July 21, 2004.
Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2
Mark Robson, M.D., Tiffany Svahn, M.D., Beryl McCormick, M.D., Patrick Borgen, M.D., Clifford A.Hudis, M.D., Larry Norton, M.D., Kenneth Offit, M.D., M.P.H. Cancer. Volume 103, Issue 1: p. 44 - 51, January 2005.
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers
Tai YC, Domchek S, Parmigiani G, Chen S,.Journal of the National Cancer Institute. 2007 Dec 5;99(23):1811-4. Epub 2007 Nov 27
Common Breast Cancer-Predisposition Alleles are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
AC Antoniou, et al on behalf of CIMBA. The American Journal of Human Genetics, 2008; 82: 937–948 .
Rapid progression of prostate cancer in men with a BRCA2 mutation
S A Narod, S Neuhausen, G Vichodez, S Armel, H T Lynch, P Ghadirian, S Cummings, O Olopade, D Stoppa-Lyonnet, F Couch, T Wagner, E Warner, W D Foulkes, H Saal, J Weitzel, A Tulman, A Poll, R Nam, and P Sun, British Journal Cancer, Volume: 99(2); Jul 22, 2008
The impact of social roles on the experience of men in BRCA1/2 families: implications for counseling
Daly, MB, Journal of Genetic Counseling. 2009 Feb;18(1):42-8.