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: 172T>A; F58I

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Primary malignant pericardial tumour in Lynch syndrome.

Bmc Cancer

Paolisso, Pasquale P; Saturi, Giulia G; Foà, Alberto A; Saponara, Maristella M; Nannini, Margherita M; Pantaleo, Maria Abbondanza MA; Leone, Ornella O; Turchetti, Daniela D; Calistri, Daniele D; Savini, Carlo C; Pacini, Davide D; Pizzi, Carmine C; Galiè, Nazzareno N

Publication Date: 2020-03-06

Variant appearance in text: MSH2: F58I

PubMed Link: 32143595

Variant Present in the following documents:

• Main text
• 12885_2020_Article_6677.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: F58I

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page