Gene-specific acmg/amp classification criteria for germline apc variants: recommendations from the clingen insight hereditary colorectal cancer/polyposis variant …
I Spier, X Yin, M Richardson, M Pineda, A Laner… - Genetics in …, 2024 - Elsevier
Abstract Purpose The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
(VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours
and the Clinical Genome Resource, who set out to develop recommendations for the
interpretation of germline APC variants underlying Familial Adenomatous Polyposis, the
most frequent hereditary polyposis syndrome. Methods Through a rigorous process of
database analysis, literature review, and expert elicitation, the APC VCEP derived gene …
(VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours
and the Clinical Genome Resource, who set out to develop recommendations for the
interpretation of germline APC variants underlying Familial Adenomatous Polyposis, the
most frequent hereditary polyposis syndrome. Methods Through a rigorous process of
database analysis, literature review, and expert elicitation, the APC VCEP derived gene …
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