MSH2 c.425C>G ;(p.S142*)

Variant ID: 2-47637291-C-G

NM_000251.2(MSH2):c.425C>G;(p.S142*)

This variant was identified in 9 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: 425C>G; S142*; rs63750910
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: 425C>G; Ser142Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Inherited mutations in Chinese patients with upper tract urothelial carcinoma.

Cell Reports. Medicine
Wu, Junlong J; Jin, Shengming S; Gu, Chengyuan C; Wei, Yu Y; Zhu, Yao Y; Necchi, Andrea A; Shariat, Shahrokh F SF; Pan, Jian J; Gan, Hualei H; Dai, Bo B; Zhang, Hailiang H; Shi, Guohai G; Zhu, Yu Y; Shen, Yijun Y; Zhu, Yiping Y; Ye, Dingwei D
Publication Date: 2022-12-23

Variant appearance in text: MSH2: 425C>G; S142*
PubMed Link: 36630951
Variant Present in the following documents:
  • mmc5.pdf
  • main.pdf
View BVdb publication page



InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MSH2: Ser142X
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.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: 425C>G; S142X; rs63750910
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: 425C>G; Ser142Ter; rs63750910
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
View BVdb publication page



A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Publication Date: 2017-09-05

Variant appearance in text: MSH2: Ser142*
PubMed Link: 28874130
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3599.pdf
View BVdb publication page



Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature Communications
Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K
Publication Date: 2017-05-03

Variant appearance in text: MSH2: S142*
PubMed Link: 28466842
Variant Present in the following documents:
  • Main text
  • ncomms14755.pdf
View BVdb publication page



Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Cancer Genetics
Sunga, Annette Y AY; Ricker, Charité C; Espenschied, Carin R CR; Castillo, Danielle D; Melas, Marilena M; Herzog, Josef J; Bannon, Sarah S; Cruz-Correa, Marcia M; Lynch, Patrick P; Solomon, Ilana I; Gruber, Stephen B SB; Weitzel, Jeffrey N JN
Publication Date: 2017-04

Variant appearance in text: MSH2: 425C>G
PubMed Link: 28449805
Variant Present in the following documents:
  • Main text
View BVdb publication page