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When and How to Perform Genetic Testing for Inherited Colorectal Cancer Syndromes

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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Neuroendocrine and Adrenal Tumors, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology

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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Colorectal Cancer Screening

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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Solid Malignancies in Individuals With Down Syndrome: A Case Presentation and Literature Review

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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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019

Featured Updates to the NCCN Guidelines

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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NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021

Featured Updates to the NCCN Guidelines

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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Impact of an NCCN-Compliant Multidisciplinary Conference on Treatment Decisions for Localized Prostate Cancer

Ahmed A. Hussein, Umar Iqbal, Zhe Jing, Yousuf Ramahi, Holly Houenstein, Stephanie Newman, Blake Peterson, Katarina Krajacic, Adeena Samoni, Bo Xu, Norbert Sule, Gissou Azabdaftari, Eric C. Kauffman, James L. Mohler, Michael Kuettel, and Khurshid A. Guru

, radiotherapy with or without androgen deprivation therapy (ADT), ADT alone, or further workup (eg, staging studies, targeted prostate biopsies, and/or genetic counseling for high-risk patients or those with strong family history). When more than 1

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Four-Year Disease-Free Remission in a Patient With POLE Mutation–Associated Colorectal Cancer Treated Using Anti–PD-1 Therapy

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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Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer

Michael A. Cilento, Nicola K. Poplawski, Sellvakumaram Paramasivam, David M. Thomas, and Ganessan Kichenadasse

only for the benefit of patients for whom the result may directly inform their cancer management but also for their families in whom appropriate institution of timely genetic counseling has the potential to saves lives. References 1

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Integrated Histogenetic Analysis Reveals BAP1-Mutated Epithelioid Mesothelioma in a Patient With Cancer of Unknown Primary

Tilmann Bochtler, Volker Endris, Anna Reiling, Jonas Leichsenring, Michal R. Schweiger, Sebastian Klein, Fabian Stögbauer, Benjamin Goeppert, Peter Schirmacher, Alwin Krämer, and Albrecht Stenzinger

additional private WT1 mutation (p.Asp410Glu) at an allele frequency of 18.2%. This mutation is a presumably deleterious mutation, which was undetectable in the lymph node and mesothelioma specimens. The patient subsequently received genetic counseling by