Publications:

Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review.

Frontiers In Immunology

Li, Na N; Wan, Zixuan Z; Lu, Dongyan D; Chen, Ruilian R; Ye, Xiaowei X

Publication Date: 2022

Variant appearance in text: MSH2: 1906G>A; A636T

PubMed Link: 36703977

Variant Present in the following documents:

• Main text

View BVdb publication page

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 1906G>A; Ala636Thr

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: rs63750875

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Human Mutation

Arnold, Sven S; Buchanan, Daniel D DD; Barker, Melissa M; Jaskowski, Lesley L; Walsh, Michael D MD; Birney, Genevieve G; Woods, Michael O MO; Hopper, John L JL; Jenkins, Mark A MA; Brown, Melissa A MA; Tavtigian, Sean V SV; Goldgar, David E DE; Young, Joanne P JP; Spurdle, Amanda B AB

Publication Date: 2009-05

Variant appearance in text: MSH2: 1906G>A

PubMed Link: 19267393

Variant Present in the following documents:

• Main text

View BVdb publication page