MLH1 c.1050A>G ;(p.P350=)

Variant ID: 3-37067139-A-G

NM_000249.3(MLH1):c.1050A>G;(p.P350=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.

Biomedicines
Botrus, Gehan G; Roe, Denise D; Jameson, Gayle S GS; Junior, Pedro Luiz Serrano Uson PLSU; Korn, Ronald Lee RL; Caldwell, Lana L; Bargenquast, Taylor T; Miller, Max M; Borazanci, Erkut Hasan EH
Publication Date: 2022-10-26

Variant appearance in text: MLH1: 1050A>G
PubMed Link: 36359225
Variant Present in the following documents:
  • biomedicines-10-02705.pdf
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MLH1: 1050A>G
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MLH1: 1050A>G; Pro350=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

World Journal Of Gastroenterology
Sánchez de Abajo, Ana A; de la Hoya, Miguel M; Tosar, Alicia A; Godino, Javier J; Fernández, Juan-Manuel JM; Asenjo, Jose-Lopez JL; Villamil, Beatriz-Perez BP; Segura, Pedro-Perez PP; Diaz-Rubio, Eduardo E; Caldes, Trinidad T
Publication Date: 2005-10-07

Variant appearance in text: MLH1: P350P
PubMed Link: 16270383
Variant Present in the following documents:
  • Main text
View BVdb publication page