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Article

Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.

Molecular genetics & genomic medicine - 1 Jan 2024

Gass Melanie, Seebauer Britta, Thommen Aline, Fischler Alexandra, Heinimann Karl

Abstract excerpt

BACKGROUND: Lynch syndrome represents one of the most common cancer predispositions worldwide and is caused by germline pathogenic variants (PV) in DNA mismatch repair (MMR) genes. We repeatedly identified a PV in the MMR gene PMS2, c.1831dup, accounting for 27% of all Swiss PMS2 PV index patients identified. Notably, 2/18 index patients had been diagnosed with colorectal cancer (CRC) before age 30. METHODS: In...

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Identifiers

PMID: 38284451
DOI: 10.1002/mgg3.2360
PMCID: PMC10797823

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