Publications:

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: 1228G>T; Gly410Cys

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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: MSH2: 1228G>T; G410C; rs587782242

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: rs587782242

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 2

View BVdb publication page

Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.

Plos One

Singh, Ashish Kumar AK; Talseth-Palmer, Bente B; McPhillips, Mary M; Lavik, Liss Anne Solberg LAS; Xavier, Alexandre A; Drabløs, Finn F; Sjursen, Wenche W

Publication Date: 2020

Variant appearance in text: MSH2: 1228G>T; Gly410Cys; rs587782242

PubMed Link: 32634176

Variant Present in the following documents:

• Main text
• pone.0235613.s008.xlsx, sheet 1
• pone.0235613.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: G410C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page