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Susan M. Domchek, Jill E. Stopfer and Timothy R. Rebbeck

. References 1. Rebbeck TR Lynch HT Neuhausen SL . Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations . N Engl J Med 2002 ; 346 : 1616 – 1622 . 2. Kauff ND Satagopan JM Robson ME . Risk-reducing salpingo-oophorectomy in

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Caiqian Cropper, Ashley Woodson, Banu Arun, Carlos Barcenas, Jennifer Litton, Sarah Noblin, Diane Liu, Minjeong Park and Molly Daniels

) associated with germline mutations in the BRCA1 and BRCA2 genes 2 is the most common hereditary breast cancer predisposition. In the general population, approximately 1 in 400 people (possibly up to 1/200 in select populations) have a BRCA1/2 mutation

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Monique A. de Bruin, James M. Ford and Allison W. Kurian

bilateral breast cancer at a young age, she met NCCN criteria for BRCA1/2 mutation testing. 1 She underwent appropriate genetic counseling and then BRCA1/2 mutation testing by full sequencing, which was negative. BRCAnalysis Comprehensive Rearrangement

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Filipa Lynce and Claudine Isaacs

Deleterious mutations in the BRCA1 and BRCA2 genes are associated with a markedly elevated risk of early-onset breast and ovarian cancer. Mutation carriers have up to a 70% risk of breast cancer and an 11% to 40% risk of ovarian cancer by age

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Mary B. Daly, Jennifer E. Axilbund, Saundra Buys, Beth Crawford, Carolyn D. Farrell, Susan Friedman, Judy E. Garber, Salil Goorha, Stephen B. Gruber, Heather Hampel, Virginia Kaklamani, Wendy Kohlmann, Allison Kurian, Jennifer Litton, P. Kelly Marcom, Robert Nussbaum, Kenneth Offit, Tuya Pal, Boris Pasche, Robert Pilarski, Gwen Reiser, Kristen Mahoney Shannon, Jeffrey R. Smith, Elizabeth Swisher and Jeffrey N. Weitzel

hereditary cancers, advances in molecular genetics have identified several genes associated with inherited susceptibility to breast and/or ovarian cancers (e.g., BRCA1, BRCA2, PTEN, TP53, CDH1 ) and provided a means of characterizing the specific gene

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Melinda Telli

triple-negative and BRCA1/2 -mutant breast cancer may be more likely to benefit from a DNA repair defect–targeted approach. In addition, she looked at the difference in response to carboplatin versus docetaxel in the metastatic setting based on BRCA1

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Huong T. Le-Petross

patients with germline mutations of BRCA1 . Lancet 1998 ; 351 : 316 – 321 . 4. Cancer Research Campaign (CRC) Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, U.K. Cancer risks in BRCA2 mutation carriers . The Breast

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Tomas G. Lyons and Mark E. Robson

significant replication stress. Replication fork stalling occurs with subsequent collapse and the formation of double-strand breaks (DSBs). 4 Homologous recombination–directed repair is a highly accurate process for repairing DSBs. Both BRCA1 and BRCA2

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Peter R. Carroll, J. Kellogg Parsons, Gerald Andriole, Robert R. Bahnson, Erik P. Castle, William J. Catalona, Douglas M. Dahl, John W. Davis, Jonathan I. Epstein, Ruth B. Etzioni, Thomas Farrington, George P. Hemstreet III, Mark H. Kawachi, Simon Kim, Paul H. Lange, Kevin R. Loughlin, William Lowrance, Paul Maroni, James Mohler, Todd M. Morgan, Kelvin A. Moses, Robert B. Nadler, Michael Poch, Chuck Scales, Terrence M. Shaneyfelt, Marc C. Smaldone, Geoffrey Sonn, Preston Sprenkle, Andrew J. Vickers, Robert Wake, Dorothy A. Shead and Deborah A. Freedman-Cass

. Instead, they added a footnote to emphasize these points (see PROSD-2; page 511). BRCA1 and BRCA2 Mutations Germline BRCA1 and BRCA2 mutations (associated with hereditary breast and/or ovarian cancer syndrome) have been associated with an

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Talia Golan and Milind Javle

Additionally, in 1991, King et al 10 discovered that the BRCA1 gene on chromosome 17 is involved in homologous recombination repair. Mutations in BRCA1/2 predispose women to familial breast and ovarian cancers, men to prostate cancer, and both sexes to