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David M. O’Malley

treatment should not be delayed for genetic counseling. For patients with recurrent or refractory disease, validated molecular testing should be performed in a CLIA-approved facility using the most recently obtained tissue. Testing for patients with

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chemoprevention but opted out. Of the 306 patients, 48% (n=131) were eligible for genetic counseling, 27 genetic counseling appointments were scheduled but only 19 were kept, and genetic testing was conducted on 8% of patients (n=11), 7 of whom had negative

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Patrick M. Lynch

the Bayesian principles of Mendelian genetics involved in this process are straightforward, providing formal genetic counseling is nevertheless advisable in most instances, lest missteps in the testing process occur. 10 , 11 As suggested earlier, the

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Randall W. Burt, James S. Barthel, Kelli Bullard Dunn, Donald S. David, Ernesto Drelichman, James M. Ford, Francis M. Giardiello, Stephen B. Gruber, Amy L. Halverson, Stanley R. Hamilton, Mohammad K. Ismail, Kory Jasperson, Audrey J. Lazenby, Patrick M. Lynch, Edward W. Martin Jr., Robert J. Mayer, Reid M. Ness, Dawn Provenzale, M. Sambasiva Rao, Moshe Shike, Gideon Steinbach, Jonathan P. Terdiman, and David Weinberg

the severity of family history. Many other issues are involved in genetic counseling of individuals undergoing presymptomatic testing for cancer susceptibility. Many individuals elect not to undergo testing, and these individuals must be counselled

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Manisha H. Shah, Whitney S. Goldner, Al B. Benson III, Emily Bergsland, Lawrence S. Blaszkowsky, Pamela Brock, Jennifer Chan, Satya Das, Paxton V. Dickson, Paul Fanta, Thomas Giordano, Thorvardur R. Halfdanarson, Daniel Halperin, Jin He, Anthony Heaney, Martin J. Heslin, Fouad Kandeel, Arash Kardan, Sajid A. Khan, Boris W. Kuvshinoff II, Christopher Lieu, Kimberly Miller, Venu G. Pillarisetty, Diane Reidy, Sarimar Agosto Salgado, Shagufta Shaheen, Heloisa P. Soares, Michael C. Soulen, Jonathan R. Strosberg, Craig R. Sussman, Nikolaos A. Trikalinos, Nataliya A. Uboha, Namrata Vijayvergia, Terence Wong, Beth Lynn, and Cindy Hochstetler

Counseling In the 2021 guidelines, the panel included a new principles of genetic risk assessment and counseling for hereditary endocrine neoplasias. This section outlines how to go about genetic counseling, provides an overview of clinical manifestations

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Scott V. Bratman, Kathleen C. Horst, Robert W. Carlson, and Daniel S. Kapp

incidence of Down syndrome in the United States: implications for prenatal screening and genetic counseling . Am J Med Genet A 2005 ; 133A : 31 – 36 . 2. Hasle H Clemmensen IH Mikkelsen M . Risks of leukaemia and solid tumours in individuals

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Jennifer M. Weiss, Samir Gupta, Carol A. Burke, Lisen Axell, Lee-May Chen, Daniel C. Chung, Katherine M. Clayback, Susan Dallas, Seth Felder, Olumide Gbolahan, Francis M. Giardiello, William Grady, Michael J. Hall, Heather Hampel, Rachel Hodan, Gregory Idos, Priyanka Kanth, Bryson Katona, Laura Lamps, Xavier Llor, Patrick M. Lynch, Arnold J. Markowitz, Sara Pirzadeh-Miller, Niloy Jewel Samadder, David Shibata, Benjamin J. Swanson, Brittany M. Szymaniak, Georgia L. Wiesner, Andrew Wolf, Matthew B. Yurgelun, Mae Zakhour, Susan D. Darlow, Mary A. Dwyer, and Mallory Campbell

counseling, risk assessment, and testing of family members. If there is suspicion for FAP/AFAP, genetic counseling and testing should be suggested. Identifying a P/LP variant allows for screening and testing of at-risk family members. When the familial P

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Samir Gupta, Dawn Provenzale, Xavier Llor, Amy L. Halverson, William Grady, Daniel C. Chung, Sigurdis Haraldsdottir, Arnold J. Markowitz, Thomas P. Slavin Jr, Heather Hampel, CGC, Reid M. Ness, Jennifer M. Weiss, Dennis J. Ahnen, Lee-may Chen, Gregory Cooper, Dayna S. Early, Francis M. Giardiello, Michael J. Hall, Stanley R. Hamilton, Priyanka Kanth, Jason B. Klapman, Audrey J. Lazenby, Patrick M. Lynch, Robert J. Mayer, June Mikkelson, CGC, Shajan Peter, Scott E. Regenbogen, Mary A. Dwyer, CGC, and Ndiya Ogba

Panel recommends a stepwise approach to risk assessment for hereditary CRC syndromes (see HRS-1, facing page), which should include genetic counseling and patient education by a professional who has expertise and experience in cancer genetics if the

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Michael L. Durando, Sanjay V. Menghani, Jessica L. Baumann, Danny G. Robles, Tovah A. Day, Cyrus Vaziri, and Aaron J. Scott

13D; PIK3CA C278W; a BRCA1 variant of unknown significance (VUS), R1443Q; and BRCA2 VUS K2191N. After this result, our patient was referred for genetic counseling and germline testing. Analysis via the CancerNext panel (Ambry Genetics) showed no

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Megan Randall, Kelly Burgess, Lela Buckingham, and Lydia Usha

cancer and germline BRCA mutations are more likely to benefit from platinum-based chemotherapy and PARP inhibitors. 1 , 4 All women diagnosed with OC should be referred for genetic counseling and testing, regardless of family history and age at