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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Scott V. Bratman, Kathleen C. Horst, Robert W. Carlson, and Daniel S. Kapp
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
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
Ammar Sukari, Misako Nagasaka, and Erin Wakeling
genetics clinic for further counseling and testing for hereditary lung cancer syndrome. Her 3 children were also referred for genetic counseling. Discussion Historically, Histology Mattered Lung cancer is the most common cancer worldwide. In
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
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
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
James McCanney, Terrell Johnson, Lindsey A.M. Bandini, Shonta Chambers, Lynette Bonar, and Robert W. Carlson
in Oncology (NCCN Guidelines) to create a project plan unique to each patient. For example, the 4R Oncology Program can determine whether a patient has a hereditary risk of breast cancer and needs to be referred to genetic counseling and to
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
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
