An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome

Olga A Vostrukhina; Elena D Mirlina; Darya N Khmelkova; Galina M Butrovich; Alexandra D Shakhmatova; Yury V Kil; Yliya L Polyatskin; Anna S Artemyeva; Alexey V Gulyaev; Valery N Verbenko

doi:10.1038/s41439-022-00216-7

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome

Hum Genome Var. 2022 Oct 26;9(1):37. doi: 10.1038/s41439-022-00216-7.

Affiliations

¹ Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina, 188300, Russia.
² Centre of Genetics and Reproductive Medicine "Genetico", Moscow, 119333, Russia.
³ N.N. Petrov National Medical Research Centre of Oncology, St. Petersburg, 197758, Russia.
⁴ Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina, 188300, Russia. verbenko_vn@pnpi.nrcki.ru.

Abstract

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.