MSH2 c.1968C>G ;(p.Y656*)

Variant ID: 2-47702372-C-G

NM_000251.2(MSH2):c.1968C>G;(p.Y656*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSH2: 1968C>G; Tyr656Ter; rs63751317
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MSH2: 1968C>G; Tyr656Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)
Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR
Publication Date: 2022-05

Variant appearance in text: MSH2: 1968C>G; Tyr656Ter; rs63751317
PubMed Link: 35029067
Variant Present in the following documents:
  • CAC2-42-481-s003.xlsx, sheet 3
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH2: 1968C>G; Y656X; rs63751317
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Prolonged Treatment Response to Pembrolizumab in a Patient with Pretreated Metastatic Colon Cancer and Lynch Syndrome.

Case Reports In Oncological Medicine
Keating, Matthew M; Giscombe, Lisa L; Tannous, Toufic T; Hartshorn, Kevan K
Publication Date: 2019

Variant appearance in text: MSH2: Y656X
PubMed Link: 31565451
Variant Present in the following documents:
  • Main text
  • CRIONM2019-3847672.pdf
View BVdb publication page



The mutational spectrum of Lynch syndrome in cyprus.

Plos One
Loizidou, Maria A MA; Neophytou, Ioanna I; Papamichael, Demetris D; Kountourakis, Panteleimon P; Vassiliou, Vassilios V; Marcou, Yiola Y; Kakouri, Eleni E; Ioannidis, Georgios G; Philippou, Chrystalla C; Spanou, Elena E; Tanteles, George A GA; Anastasiadou, Violetta V; Hadjisavvas, Andreas A; Kyriacou, Kyriacos K
Publication Date: 2014

Variant appearance in text: MSH2: Tyr656*
PubMed Link: 25133505
Variant Present in the following documents:
  • Main text
  • pone.0105501.pdf
View BVdb publication page



Some aspects of molecular diagnostics in Lynch syndrome.

Hereditary Cancer In Clinical Practice
Kurzawski, Grzegorz G
Publication Date: 2006-12-15

Variant appearance in text: MSH2: 1968C>G
PubMed Link: 20223024
Variant Present in the following documents:
  • Main text
  • 1897-4287-4-4-197.pdf
View BVdb publication page



Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

The Journal Of Molecular Diagnostics : Jmd
Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Suchy, Janina J; Pławski, Andrzej A; Słomski, Ryszard R; Kaklewski, Krzysztof K; Scott, Rodney J RJ; Gronwald, Jacek J; Kładny, Józef J; Byrski, Tomasz T; Huzarski, Tomasz T; Lubiński, Jan J; Kurzawski, Grzegorz G
Publication Date: 2010-01

Variant appearance in text: MSH2: 1968C>G
PubMed Link: 20007843
Variant Present in the following documents:
  • Main text
View BVdb publication page