MLH1 c.374C>A ;(p.A125E)

Variant ID: 3-37045959-C-A

NM_000249.3(MLH1):c.374C>A;(p.A125E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: MLH1: 374C>A; A125E
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Tumor Molecular Testing Guides Anti-PD-1 Therapy and Provides Evidence for Pathogenicity of Mismatch Repair Variants.

The Oncologist
Patel, Shyam A SA; Longacre, Teri A TA; Ladabaum, Uri U; Lebensohn, Alexandra A; Lin, Albert Y AY; Haraldsdottir, Sigurdis S
Publication Date: 2018-12

Variant appearance in text: MLH1: 374C>A; Ala125Glu
PubMed Link: 30072391
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget
Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD
Publication Date: 2017-11-07

Variant appearance in text: MLH1: A125E
PubMed Link: 29212164
Variant Present in the following documents:
  • Main text
  • oncotarget-08-93450-s002.xlsx, sheet 1
  • oncotarget-08-93450.pdf
  • oncotarget-08-93450-s003.xlsx, sheet 1
View BVdb publication page



Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Bmj Open
Rosty, Christophe C; Clendenning, Mark M; Walsh, Michael D MD; Eriksen, Stine V SV; Southey, Melissa C MC; Winship, Ingrid M IM; Macrae, Finlay A FA; Boussioutas, Alex A; Poplawski, Nicola K NK; Parry, Susan S; Arnold, Julie J; Young, Joanne P JP; Casey, Graham G; Haile, Robert W RW; Gallinger, Steven S; Le Marchand, Loïc L; Newcomb, Polly A PA; Potter, John D JD; DeRycke, Melissa M; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Baron, John A JA; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD; ,
Publication Date: 2016-02-19

Variant appearance in text: MLH1: 374C>A; Ala125Glu
PubMed Link: 26895986
Variant Present in the following documents:
  • Main text
  • bmjopen-2015-010293.pdf
View BVdb publication page