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: 1250T>C; V417A

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology

Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE

Publication Date: 2021-01

Variant appearance in text: MSH2: 1250T>C

PubMed Link: 33393477

Variant Present in the following documents:

• Main text

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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: V417A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page