, 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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Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014
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
Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer
Ranjit Manchanda, Li Sun, Monika Sobocan, Isabel V. Rodriguez, Xia Wei, Ashwin Kalra, Samuel Oxley, Michail Sideris, Caitlin T. Fierheller, Robert D. Morgan, Dhivya Chandrasekaran, Kelly Rust, Pavlina Spiliopoulou, Rowan E. Miller, Shanthini M. Crusz, Michelle Lockley, Naveena Singh, Asma Faruqi, Laura Casey, Elly Brockbank, Saurabh Phadnis, Tina Mills-Baldock, Fatima El-Khouly, Lucy A. Jenkins, Andrew Wallace, Munaza Ahmed, Ajith Kumar, Elizabeth M. Swisher, Charlie Gourley, Barbara M. Norquist, D. Gareth Evans, and Rosa Legood
by 24% in the United Kingdom, 28% in the United States, and 47% worldwide. 1 Germline pathogenic and likely pathogenic variants (henceforth termed “pathogenic variants” [PVs]) in BRCA1/BRCA2 comprise most of the known inheritable component of OC
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024
Featured Updates to the NCCN Guidelines
Mary B. Daly, Tuya Pal, Kara N. Maxwell, Jane Churpek, Wendy Kohlmann, Zahraa AlHilli, Banu Arun, Saundra S. Buys, Heather Cheng, Susan M. Domchek, Susan Friedman, Veda Giri, Michael Goggins, Andrea Hagemann, Ashley Hendrix, Mollie L. Hutton, Beth Y. Karlan, Nawal Kassem, Seema Khan, Katia Khoury, Allison W. Kurian, Christine Laronga, Julie S. Mak, John Mansour, Kevin McDonnell, Carolyn S. Menendez, Sofia D. Merajver, Barbara S. Norquist, Kenneth Offit, Dominique Rash, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Kala Visvanathan, Jeanna Welborn, Myra J. Wick, Marie Wood, Matthew B. Yurgelun, Mary A. Dwyer, and Susan D. Darlow
-line TP53 mutations in women diagnosed with breast cancer before age 30 . Fam Cancer 2009 ; 8 : 563 – 567 . 39. Lalloo F , Varley J , Moran A , BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks
Pilot Trial of Streamlined Genetic Education and Traceback Genetic Testing in Prostate Cancer Survivors
Marc D. Schwartz, Beth N. Peshkin, Claudine Isaacs, Christopher Grisham, Nora J. Holmes, Lia J. Sorgen, Sean Collins, Nancy Dawson, Colleen McGuire, Tobechukwu Okobi, Kelsey Newell, Kavitha A. Kolla, and Veronique Weinstein
pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer . Br J Cancer 2022 ; 127 : 1680 – 1690 . 63. Valle L , Katz LH , Latchford A , Position statement of the International
Germline and Somatic Mutations in Prostate Cancer for the Clinician
Heather H. Cheng, Alexandra O. Sokolova, Edward M. Schaeffer, Eric J. Small, and Celestia S. Higano
and out-of-pocket costs, although with assistance programs and competitive pricing, patient costs can often be limited to several hundred dollars or less. If genetic testing is being performed in the context of advanced prostate cancer, BRCA1 , BRCA2
QIM21-087: Genetic Testing of Newly Diagnosed Ovarian Cancer Patients in a Regional Cancer Center in Appalachia
Hassaan Jafri, Isna Khan, and Nadim Bou Zgheib
Background: All women diagnosed with epithelial ovarian cancer should be offered germline genetic testing for BRCA1, BRCA2, and other ovarian cancer susceptibility genes. As per American Society of Clinical Oncology (ASCO) and National
Breast Cancer Risk Assessment: A Guide for Clinicians Using the NCCN Breast Cancer Risk Reduction Guidelines
Sofia D. Merajver and Kara Milliron
: 145 – 158 . 19 Berry DA Iversen ES Jr Gudbjartsson DF . BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes . J Clin Oncol 2002 ; 20 : 2701 – 2712 .
BPI22-025: The Timing of Screening Breast MRI and Mammography for Women With Genetic Predisposition for Cancer
Xia Wang, Maxine D. Chang, Marie Catherine Lee, and Bethany L. Niell
conferring moderate or high risk for breast cancer. Such enhanced screening is also used for women whose lifetime breast cancer risk is 20% or higher based on the Tyrer-Cuzick model. We reviewed the records of 359 women carrying PVs in ATM, BRCA1, BRCA2, CHEK
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020
Featured Updates to the NCCN Guidelines
Mary B. Daly, Robert Pilarski, Matthew B. Yurgelun, Michael P. Berry, Saundra S. Buys, Patricia Dickson, Susan M. Domchek, Ahmed Elkhanany, Susan Friedman, Judy E. Garber, Michael Goggins, Mollie L. Hutton, Seema Khan, Catherine Klein, Wendy Kohlmann, Allison W. Kurian, Christine Laronga, Jennifer K. Litton, Julie S. Mak, Carolyn S. Menendez, Sofia D. Merajver, Barbara S. Norquist, Kenneth Offit, Tuya Pal, Holly J. Pederson, Gwen Reiser, Kristen Mahoney Shannon, Kala Visvanathan, Jeffrey N. Weitzel, Myra J. Wick, Kari B. Wisinski, Mary A. Dwyer, and Susan D. Darlow
greater incidence of pancreatic cancer than family history alone (without the presence of an associated germline variant). 61 Germline mutations commonly found in pancreatic adenocarcinoma include BRCA1 , BRCA2 , CDKN2A , mismatch repair genes
Multigene Testing for Hereditary Cancer: When, Why, and How
Kenneth Offit
others put patients at increased risk for one or both cancers. Genes included in the new recommendations are ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD 51C, RAD5 1D, STK1 , and TP53 ; MSH2, MLH1, MSH6, PMS2 , and EPCAM are
