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Article

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Clinical genetics - 1 Jan 2022

Mikaeel Reger R, Young Joanne P, Li Yun, Poplawski Nicola K, Smith Eric, Horsnell Mehgan, Uylaki Wendy, Tomita Yoko, Townsend Amanda R, Feng Jinghua, Zibat Arne, Kaulfuß Silke, Müller Christian, Yigit Gökhan, Wollnik Bernd, Scott Hamish, Rawlings Lesley, Henry Denae, Vakulin Cassandra, Dubowsky Andrew, Price Timothy J

Abstract excerpt

The role of RNF43 as a cause of an inherited predisposition to colorectal cancer (CRC) is yet to be fully explored. This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of 50 years and 65 years,...

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Identifiers

PMID: 34541672
DOI: 10.1111/cge.14064

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