2024
DOI: 10.1002/mgg3.2360
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Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup

Melanie Gass,
Britta Seebauer,
Aline Thommen
et al.

Abstract: BackgroundLynch 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.MethodsIn this study, we investigated if this PV could (i) represent a founder variant by haplotype analysis and (i… Show more

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