a blueprint to advance prevention efforts in the future. Panelists highlighted how advancements in genetic testing have impacted prevention and screening programs for people with hereditary risk factors. By understanding genetic risk, individuals
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NCCN Policy Summit: Reducing the Cancer Burden Through Prevention and Early Detection
Lindsey Bandini, Alyssa Schatz, Victoria Hood, Nikia Clark, Michael J. Hall, and Robert W. Carlson
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
/or therapeutic response. 41 Genetic testing on this patient revealed that 46% of tumor cells harbored the P286R mutation in the exonuclease proofreading domain of POLE. This particular POLE mutation has been shown to cause a mutator phenotype 20 and has
Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer
Kazzem Gheybi, Jue Jiang, Shingai B.A. Mutambirwa, Pamela X.Y. Soh, Zsofia Kote-Jarai, Weerachai Jaratlerdsiri, Rosalind A. Eeles, M.S. Riana Bornman, and Vanessa M. Hayes
Background Genetic testing for germline pathogenic variants is fast becoming routine practice for men presenting with high-risk prostate cancer (PCa) in Western countries. 1 Rare pathogenic variants in medium- to high-penetrance genes not
Oncologist Perceptions of Racial Disparity, Racial Anxiety, and Unconscious Bias in Clinical Interactions, Treatment, and Outcomes
Alexandrina Balanean, Emily Bland, Ajeet Gajra, Yolaine Jeune-Smith, Andrew J. Klink, Harlen Hays, and Bruce A. Feinberg
, 13 , 16 , 20 less likely to be offered clinical trial participation 7 , 14 , 16 , 21 and genetic testing, 7 , 16 less likely to receive appropriate care across multiple tumor types, 13 , 22 and less likely to be referred to palliative care or
Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection
Rebecca A. Vanderwall, Alison Schwartz, Lindsay Kipnis, Catherine M. Skefos, Samantha M. Stokes, Nizar Bhulani, Michelle Weitz, Rebecca Gelman, Judy E. Garber, and Huma Q. Rana
services at an academic cancer institute. We hypothesized that an eCFHQ could be used as a standalone tool to determine whether NCCN genetic testing (GT) criteria are met. 16 , 17 Methods This study was approved by the Dana-Farber Cancer Institute
Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer
Kelsey S. Lau-Min, Anne Marie McCarthy, Katherine L. Nathanson, and Susan M. Domchek
Background Germline genetic testing (GT) is instrumental in identifying patients with cancer predisposition syndromes who may benefit from additional screenings, risk-reducing and therapeutic interventions, and cascade testing of family
Implementation of INHERET, an Online Family History and Cancer Risk Interpretation Program for Primary Care and Specialty Clinics
Lynn A. McCain, Kara J. Milliron, Amanda M. Cook, Robert Paquette, Jasmine B. Parvaz, Susan D. Ernst, Anne L. Kittendorf, Diane M. Harper, Philip Zazove, Jim Arthurs, Jerry A. Tippie, Bailey Hulswit, Lee F. Schroeder, David F. Keren, and Sofia D. Merajver
genetic testing . Accessed June 12, 2019. Available at: https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing 2. Daly MB , Pilarski R , Berry MP
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
epithelioid pleural mesothelioma, although there was no history of asbestos exposure. Because genetic testing of peripheral blood DNA confirmed the germline nature of the BAP1 mutation, the diagnosis of epithelioid mesothelioma caused by the BAP1 -TPDS was
NCCN Increases the Emphasis on Genetic/Familial High-Risk Assessment in Colorectal Cancer
Heather Hampel
NCCN has developed new guidelines for the assessment of high-risk familial/genetic colorectal cancer, and has positioned these recommendations within the guidelines for detection, prevention, and risk reduction. The Panel recommends that all patients with colorectal cancer be screened for Lynch syndrome, which occurs in 1 of every 35 patients and is the most common form of hereditary colorectal cancer. Such screening could be universal so that all tumors are genetically tested, or screening could be restricted to patients under the age of 70 and those aged 70 and older who meet clinical criteria.
BPI22-013: Current Guidelines for Genetic Variant Identification, a Missed Opportunity?
Rick Brown, Chloe Wernecke, Maxwell E Brown, Peter Beitsch, and Rakesh Patel
Background : National and societal guidelines play a critical role in qualifying patients for germline genetic testing. These guidelines’ purpose is to better identify individuals who are at risk for carrying germline genetic variants