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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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Jocelyn S. Chapman, Saurabh Asthana, Lindsay Cade, Matthew T. Chang, Zhen Wang, Charles J. Zaloudek, Stefanie Ueda, Eric A. Collisson and Barry S. Taylor

*, and BRCA2 I605fs*11 ( Figure 2A ). Figure 1 Imaging and pathology reveal ambiguous diagnosis. (A) Coronal CT of the abdomen shows confluent retroperitoneal and porta hepatis lymphadenopathy (top arrows) resulting in moderate obstruction of the

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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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Eric Lu, George V. Thomas, Yiyi Chen, Alexander W. Wyatt, Paul Lloyd, Jack Youngren, David Quigley, Raymond Bergan, Shawna Bailey, Tomasz M. Beer, Felix Y. Feng, Eric J. Small and Joshi J. Alumkal

Myriad Genetic Laboratories or the OHSU clinical laboratory for testing. Seven patients underwent somatic testing, performed in accordance with standard operating procedures (patients 1–3, 5–8). 12 Of these patients, 1 had tumor testing for BRCA2 alone

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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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Mary B. Daly, Robert Pilarski, Jennifer E. Axilbund, Saundra S. Buys, Beth Crawford, Susan Friedman, Judy E. Garber, Carolyn Horton, Virginia Kaklamani, Catherine Klein, Wendy Kohlmann, Allison Kurian, Jennifer Litton, Lisa Madlensky, P. Kelly Marcom, Sofia D. Merajver, Kenneth Offit, Tuya Pal, Boris Pasche, Gwen Reiser, Kristen Mahoney Shannon, Elizabeth Swisher, Nicoleta C. Voian, Jeffrey N. Weitzel, Alison Whelan, Georgia L. Wiesner, Mary A. Dwyer and Rashmi Kumar

, advances in molecular genetics have identified several genes associated with inherited susceptibility to breast and/or ovarian cancers (eg, BRCA1, BRCA2, PTEN [phosphatase and tensin homolog], TP53, CDH1 ) and provided a means of characterizing the

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Heather H. Cheng, Alexandra O. Sokolova, Edward M. Schaeffer, Eric J. Small and Celestia S. Higano

because of the risk for false-positives and false-negatives due to variation in bioinformatics and reporting between commercially available tests. If somatic testing identifies a mutation in a gene associated with cancer predisposition (eg, BRCA2

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

prospective observational study . Lancet Oncol 2011 ; 12 : 559 – 567 . 4. Antoniou A Pharoah PD Narod S . Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history