Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors
Angela Trepanier,Mary Ahrens,Wendy McKinnon,June A. Peters,Jill Stopfer,Sherry C. Grumet,Susan Manley,Julie O. Culver,Ronald T. Acton,Joy Larsen-Haidle,Lori Ann Correia,Robin L. Bennett,Barbara Pettersen,Terri Diamond Ferlita,Josephine Wagner Costalas,Katherine Hunt,Susan Donlon,Cécile Skrzynia,Carolyn Farrell,Faith Callif-Daley,Catherine Walsh Vockley +20 more
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These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing.Abstract:
These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.read more
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Genetic/familial high-risk assessment: breast and ovarian.
Mary B. Daly,Jennifer E. Axilbund,Saundra S. Buys,Beth Crawford,Carolyn Farrell,Susan Friedman,Judy Garber,Salil Goorha,Stephen B. Gruber,Heather Hampel,Virginia Kaklamani,Wendy Kohlmann,Allison W. Kurian,Jennifer K. Litton,P. Kelly Marcom,Robert L. Nussbaum,Kenneth Offit,Tuya Pal,Boris Pasche,Robert Pilarski,Gwen Reiser,Kristen M. Shannon,Jeffrey R. Smith,Elizabeth M. Swisher,Jeffrey N. Weitzel +24 more
TL;DR: Overview All cancers develop as a result of mutations in certain genes, such as those involved in the regulation of cell growth and/or DNA repair, but not all of these mutations are inherited from a parent.
Journal ArticleDOI
Autosomal Dominant Inheritance of Early-Onset Breast Cancer: Implications for Risk Prediction
TL;DR: Age-specific risks for a woman with one or more relatives affected with breast cancer at various ages at onset are given and genetic models fit previously to these data by the authors have provided evidence for a rare autosomal dominant allele that results in increased susceptibility to breast cancer.
Journal ArticleDOI
Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome
Sining Chen,Wenyi Wang,Shing Lee,Khedoudja Nafa,Johanna Lee,Johanna Lee,Kathy Romans,Patrice Watson,Stephen B. Gruber,David M. Euhus,Kenneth W. Kinzler,Jeremy R. Jass,Steven Gallinger,Noralane M. Lindor,Graham Casey,Nathan A. Ellis,Francis M. Giardiello,Kenneth Offit,Giovanni Parmigiani +18 more
TL;DR: MMRpro is a broadly applicable, accurate prediction model that can contribute to current screening and genetic counseling practices in a high-risk population.
Journal ArticleDOI
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Mary B. Daly,Robert Pilarski,Matthew B. Yurgelun,Michael Berry,Saundra S. Buys,Patricia I. Dickson,Susan M. Domchek,Ahmed Elkhanany,Susan Hatters Friedman,Judy Garber,Michael Goggins,Mollie L. Hutton,Seema A. 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 M. Shannon,Kala Visvanathan,Jeffrey N. Weitzel,Myra J. Wick,Kari B. Wisinski,Mary A. Dwyer,Susan Darlow +32 more
TL;DR: These NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding criteria for high-penetrance genes associated with breast and ovarian cancer beyond BRCA1/2, pancreas screening and genesassociated with pancreatic cancer, genetic testing for the purpose of systemic therapy decision-making, and testing for people with Ashkenazi Jewish ancestry.
References
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A genetic model for colorectal tumorigenesis
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TL;DR: A model for the genetic basis of colorectal neoplasia that includes the following salient features is presented, which may be applicable to other common epithelial neoplasms, in which tumors of varying stage are more difficult to study.
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Projecting Individualized Probabilities of Developing Breast Cancer for White Females Who Are Being Examined Annually
Mitchell H. Gail,Louise A. Brinton,David P. Byar,Donald K. Corle,Sylvan B. Green,Catherine Schairer,John J. Mulvihill +6 more
TL;DR: To assist in medical counseling, a method to estimate the chance that a woman with given age and risk factors will develop breast cancer over a specified interval is presented and individualized breast cancer probabilities are calculated.
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The Risk of Cancer Associated with Specific Mutations of BRCA1 and BRCA2 among Ashkenazi Jews
Jeffery P. Struewing,Patricia Hartge,Sholom Wacholder,Sonya M. Baker,Martha Berlin,Mary McAdams,Michelle M. Timmerman,Lawrence C. Brody,Margaret A. Tucker +8 more
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