Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

doi:10.1016/j.gim.2023.100992

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Article

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2024

Spier Isabel, Yin Xiaoyu, Richardson Marcy, Pineda Marta, Laner Andreas, Ritter Deborah, Boyle Julie, Mur Pilar, Hansen Thomas V O, Shi Xuemei, Mahmood Khalid, Plazzer John-Paul, Ognedal Elisabet, Nordling Margareta, Farrington Susan M, Yamamoto Gou, Baert-Desurmont Stéphanie, Martins Alexandra, Borras Ester, Tops Carli, Webb Erica, Beshay Victoria, Genuardi Maurizio, Pesaran Tina, Capellá Gabriel, Tavtigian Sean V, Latchford Andrew, Frayling Ian M, Plon Sharon E, Greenblatt Marc, Macrae Finlay A, Aretz Stefan

Abstract excerpt

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...

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PMID: 37800450
DOI: 10.1016/j.gim.2023.100992
PMCID: PMC10922469

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