MUTYH c.954G>T ;(p.S318=)

Variant ID: 1-45797481-C-A

NM_001048174.1(MUTYH):c.954G>T;(p.S318=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: rs372673338
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA
Publication Date: 2019-04

Variant appearance in text: rs372673338
PubMed Link: 30833417
Variant Present in the following documents:
  • Main text
  • supp_mcs.a003681_Supplemental_Table_S1_cancer_types_MUTYH_status.xlsx, sheet 3
  • MCS003681Thi.pdf
View BVdb publication page