MLH1 c.1558+4245A>G

Variant ID: 3-37074668-A-G

NM_000249.3(MLH1):c.1558+4245A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: rs3774332
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: MLH1: 1558+4245A>G; rs3774332
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.

Gynecologic Oncology
Lacey, James V JV; Yang, Hannah H; Gaudet, Mia M MM; Dunning, Alison A; Lissowska, Jolanta J; Sherman, Mark E ME; Peplonska, Beata B; Brinton, Louise A LA; Healey, Catherine S CS; Ahmed, Shahana S; Pharoah, Paul P; Easton, Douglas D; Chanock, Stephen S; Garcia-Closas, Montserrat M
Publication Date: 2011-02

Variant appearance in text: rs3774332
PubMed Link: 21093899
Variant Present in the following documents:
  • Main text
View BVdb publication page



Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

Plos One
Mrkonjic, Miralem M; Roslin, Nicole M NM; Greenwood, Celia M CM; Raptis, Stavroula S; Pollett, Aaron A; Laird, Peter W PW; Pethe, Vaijayanti V VV; Chiang, Theodore T; Daftary, Darshana D; Dicks, Elizabeth E; Thibodeau, Stephen N SN; Gallinger, Steven S; Parfrey, Patrick S PS; Younghusband, H Banfield HB; Potter, John D JD; Hudson, Thomas J TJ; McLaughlin, John R JR; Green, Roger C RC; Zanke, Brent W BW; Newcomb, Polly A PA; Paterson, Andrew D AD; Bapat, Bharati B
Publication Date: 2010-10-13

Variant appearance in text: rs3774332
PubMed Link: 20967208
Variant Present in the following documents:
  • pone.0013314.s001.xls, sheet 1
View BVdb publication page