MSH2 c.508C>T ;(p.Q170*)

Variant ID: 2-47637374-C-T

NM_000251.2(MSH2):c.508C>T;(p.Q170*)

This variant was identified in 13 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: 508C>T; Gln170Ter; rs63750843
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: 508C>T; Gln170Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: rs63750843
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: rs63750843
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
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: 508C>T; Gln170Ter; rs63750843
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH2: 508C>T; Gln170Ter; rs63750843
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
View BVdb publication page



Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Cancer
Kim, Soyoun Rachel SR; Tone, Alicia A; Kim, Raymond H RH; Cesari, Matthew M; Clarke, Blaise A BA; Eiriksson, Lua L; Hart, Tae T; Aronson, Melyssa M; Holter, Spring S; Lytwyn, Alice A; Maganti, Manjula M; Oldfield, Leslie L; Gallinger, Steven S; Bernardini, Marcus Q MQ; Oza, Amit M AM; Djordjevic, Bojana B; Lerner-Ellis, Jordan J; Van de Laar, Emily E; Vicus, Danielle D; Pugh, Trevor J TJ; Pollett, Aaron A; Ferguson, Sarah E SE
Publication Date: 2020-11-15

Variant appearance in text: MSH2: 508C>T; Gln170*
PubMed Link: 32809219
Variant Present in the following documents:
  • Main text
  • CNCR-126-4886.pdf
View BVdb publication page



Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances
Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L
Publication Date: 2019

Variant appearance in text: MSH2: 508C>T; Gln170*
PubMed Link: 32642664
Variant Present in the following documents:
  • Main text
  • vdz033.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: MSH2: 508C>T; Q170*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH2: 508C>T; Gln170X
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget
Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G
Publication Date: 2018-11-02

Variant appearance in text: MSH2: Gln170Ter
PubMed Link: 30479693
Variant Present in the following documents:
  • oncotarget-09-35623-s001.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH2: 508C>T; Gln170Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

Oncotarget
Maccaroni, Elena E; Bracci, Raffaella R; Giampieri, Riccardo R; Bianchi, Francesca F; Belvederesi, Laura L; Brugiati, Cristiana C; Pagliaretta, Silvia S; Del Prete, Michela M; Scartozzi, Mario M; Cascinu, Stefano S
Publication Date: 2015-11-17

Variant appearance in text: MSH2: Q170X
PubMed Link: 26485756
Variant Present in the following documents:
  • Main text
  • oncotarget-06-38737.pdf
View BVdb publication page



Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Plos One
Liu, Yanqun Y; Chew, Min Hoe MH; Goh, Xue Wei XW; Tan, Soo Yong SY; Loi, Carol Tien Tau CT; Tan, Yuen Ming YM; Law, Hai Yang HY; Koh, Poh Koon PK; Tang, Choong Leong CL
Publication Date: 2014

Variant appearance in text: MSH2: 508C>T; Gln170X
PubMed Link: 24710284
Variant Present in the following documents:
  • Main text
  • pone.0094170.pdf
View BVdb publication page