Article
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2020
LaDuca Holly, Polley Eric C, Yussuf Amal, Hoang Lily, Gutierrez Stephanie, Hart Steven N, Yadav Siddhartha, Hu Chunling, Na Jie, Goldgar David E, Fulk Kelly, Smith Laura Panos, Horton Carolyn, Profato Jessica, Pesaran Tina, Gau Chia-Ling, Pronold Melissa, Davis Brigette Tippin, Chao Elizabeth C, Couch Fergus J, Dolinsky Jill S
Abstract excerpt
PURPOSE: Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include. METHODS: To inform the clinical approach to hereditary cancer MGPT, we comprehensively evaluated 32 cancer predisposition genes by assessing phenotype-specific pathogenic variant (PV) frequencies, cancer risk associations, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.