Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70026
Abstract: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.(Cys233del) and c.1919C… read more here.
Keywords: reclassification two; variants uncertain; two mlh1; mlh1 variants ... See more keywords
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
Sign Up to like & getrecommendations! Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-25028-1
Abstract: Embryonic aneuploidy from mis-segregation of chromosomes during meiosis causes pregnancy loss. Proper disjunction of homologous chromosomes requires the mismatch repair (MMR) genes MLH1 and MLH3, essential in mice for fertility. Variants in these genes can… read more here.
Keywords: human mlh1; variants causing; mlh1 variants; pregnancy loss ... See more keywords