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Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer

28 Jan 2022

Abstract excerpt

Familial colorectal cancer (CRC) is only partially explained by known germline predisposing genes. We performed whole-genome sequencing in 15 Polish families of many affected individuals, without mutations in known CRC predisposing genes. We focused on loss-of-function variants and functionally characterized them. We identified a frameshift variant in the CYBA gene (c.246delC) in one family and a splice site...

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PMID: 35158942
DOI: 10.3390/cancers14030670

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