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Gene Symbol | APC | ||||||||||
Synonyms | BTPS2 | DESMD | DP2 | DP2.5 | DP3 | GS | PPP1R46 | ||||||||||
Gene Description | APC, adenomatous polyposis coli, is a tumor suppressor (PMID: 30562755) and multi-domain protein regulating numerous cellular functions through interaction with beta-catenin and subsequent inhibition of Wnt signalling (PMID: 10959075). APC germline mutations are associated with familial adenomatous polyposis (PMID: 30562755) and somatic mutations with colon, endometrial, NSCLC, and breast cancers (PMID: 27283171). | ||||||||||
ACMG Incidental List v3.0: |
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