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Mutation prevalence tables for hereditary cancer derived from multigene panel testing.

Human mutation - 1 Aug 2020

Hart Steven N, Polley Eric C, Yussuf Amal, Yadav Siddhartha, Goldgar David E, Hu Chunling, LaDuca Holly, Smith Laura P, Fujimoto June, Li Shuwei, Couch Fergus J, Dolinsky Jill S

Abstract excerpt

Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is limited, causing confusion among clinicians on which test to order. Using results from 147,994 multigene panel tests conducted at Ambry Genetics, we built an...

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PMID: 32442341
DOI: 10.1002/humu.24053
PMCID: PMC7418063

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