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: 346delA; Thr116Glnfs; rs63750906

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

Hereditary Cancer In Clinical Practice

Choi, Yun-Hee YH; Cotterchio, Michelle M; McKeown-Eyssen, Gail G; Neerav, Monga M; Bapat, Bharati B; Boyd, Kevin K; Gallinger, Steven S; McLaughlin, John J; Aronson, Melyssa M; Briollais, Laurent L

Publication Date: 2009-08-23

Variant appearance in text: MLH1: 346delA; Thr116GlnfsX20

PubMed Link: 19698169

Variant Present in the following documents:

• Main text
• 1897-4287-7-14.pdf

View BVdb publication page