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: 652C>G; Gln218Glu

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Breast Cancer Research : Bcr

Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP

Publication Date: 2020-04-15

Variant appearance in text: MSH2: 652C>G; Gln218Glu

PubMed Link: 32295625

Variant Present in the following documents:

• 13058_2020_1273_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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: Q218E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page