An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.
Olga A VostrukhinaElena D MirlinaDarya N KhmelkovaGalina M ButrovichAlexandra D ShakhmatovaYury V KilYliya L PolyatskinAnna S ArtemyevaAlexey V GulyaevValery N VerbenkoPublished in: Human genome variation (2022)
We identified a three-generation Russian family with Lynch syndrome with a novel germline variant of the MSH6 gene. An 84-year-old female was diagnosed with endometrial adenocarcinoma at the age of 49 years. Her son was diagnosed with colorectal tubular adenoma at the age of 32 years. A germline nonsense variant (c.484 G > T:p.Gly162Ter) in exon 3 of the MSH6 gene was revealed by whole-exome sequencing. Sanger sequencing confirmed the cosegregation of the MSH6 nonsense variant in family members.