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

ConclusionOur results suggest that thePMS2 c.1831dup PV represents a, probably ancient, founder mutation and is possibly associated with an earlier CRC diagnosis compared to otherPMS2 PVs.

Source: Molecular Genetics & Genomic Medicine - January 19, 2024 Category: Genetics & Stem Cells Authors: Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinimann Tags: ORIGINAL ARTICLE Source Type: research