MSH2 c.715C>T ;(p.Q239*)

Variant ID: 2-47639622-C-T

NM_000251.2(MSH2):c.715C>T;(p.Q239*)

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: 715C>T; Gln239Ter; rs63750488
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: 715C>T; Gln239Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Case Report: Potential Predictive Value of MMR/MSI Status and PD-1 Expression in Immunotherapy for Urothelial Carcinoma.

Pathology Oncology Research : Por
Ma, Yu-Ting YT; Yang, Hong-Lan HL; Yan, Li L; Hua, Fang F; Wang, Dong-Guan DG; Xu, Guo-Ying GY; Li, Yan Y; Xue, Ying-Jie YJ; Qin, Ye-Jun YJ; Sha, Dan D; Ning, Hao H; Zhao, Miao-Qing MQ; Yao, Zhi-Gang ZG
Publication Date: 2022

Variant appearance in text: MSH2: 715C>T; Gln239*
PubMed Link: 36338826
Variant Present in the following documents:
  • Main text
  • pore-28-1610638.pdf
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: 715C>T; Q239X; rs63750488
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.

Internal Medicine (Tokyo, Japan)
Yamashita, Kentaro K; Fukushima, Hisayo H; Teramoto, Mizue M; Okita, Kenji K; Ishikawa, Aki A; Sakurai, Akihiro A; Akagi, Kiwamu K; Nakase, Hiroshi H
Publication Date: 2021-09-01

Variant appearance in text: MSH2: 715C>T; Gln239*
PubMed Link: 33746161
Variant Present in the following documents:
  • Main text
  • 1349-7235-60-2719.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MSH2: Q239*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: 715C>T; Q239*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
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: 715C>T; Q239X
PubMed Link: 20223024
Variant Present in the following documents:
  • Main text
  • 1897-4287-4-4-197.pdf
View BVdb publication page