An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
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 ger...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-10-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00216-7 |
| _version_ | 1828731675417247744 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Olga A. Vostrukhina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T17:49:39Z |
| format | Article |
| id | doaj.art-29b3b8194ff4437985fe678f6e3801d6 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-12T17:49:39Z |
| publishDate | 2022-10-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-29b3b8194ff4437985fe678f6e3801d62022-12-22T03:22:32ZengNature Publishing GroupHuman Genome Variation2054-345X2022-10-01911410.1038/s41439-022-00216-7An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndromeOlga A. Vostrukhina0Elena D. Mirlina1Darya N. Khmelkova2Galina M. Butrovich3Alexandra D. Shakhmatova4Yury V. Kil5Yliya L. Polyatskin6Anna S. Artemyeva7Alexey V. Gulyaev8Valery N. Verbenko9Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre “Kurchatov Institute”Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre “Kurchatov Institute”Centre of Genetics and Reproductive Medicine “Genetico”Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre “Kurchatov Institute”Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre “Kurchatov Institute”Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre “Kurchatov Institute”N.N. Petrov National Medical Research Centre of OncologyN.N. Petrov National Medical Research Centre of OncologyN.N. Petrov National Medical Research Centre of OncologyPetersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre “Kurchatov Institute”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.https://doi.org/10.1038/s41439-022-00216-7 |
| spellingShingle | 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 An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome Human Genome Variation |
| title | An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome |
| title_full | An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome |
| title_fullStr | An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome |
| title_full_unstemmed | An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome |
| title_short | An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome |
| title_sort | msh6 germline pathogenic variant p gly162ter associated with lynch syndrome |
| url | https://doi.org/10.1038/s41439-022-00216-7 |
| work_keys_str_mv | AT olgaavostrukhina anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT elenadmirlina anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT daryankhmelkova anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT galinambutrovich anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT alexandradshakhmatova anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT yuryvkil anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT yliyalpolyatskin anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT annasartemyeva anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT alexeyvgulyaev anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT valerynverbenko anmsh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT olgaavostrukhina msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT elenadmirlina msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT daryankhmelkova msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT galinambutrovich msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT alexandradshakhmatova msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT yuryvkil msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT yliyalpolyatskin msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT annasartemyeva msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT alexeyvgulyaev msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome AT valerynverbenko msh6germlinepathogenicvariantpgly162terassociatedwithlynchsyndrome |