Publications:

Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance

Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P

Publication Date: 2022-10-13

Variant appearance in text: MSH2: Ala256Val

PubMed Link: 36229065

Variant Present in the following documents:

• LSA-2022-01551_TableS16.xlsx, sheet 1

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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: 767C>T; A256V

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: A256V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

Bmc Medical Genetics

Castillejo, Adela A; Guarinos, Carla C; Martinez-Canto, Ana A; Barbera, Victor-Manuel VM; Egoavil, Cecilia C; Castillejo, Maria-Isabel MI; Perez-Carbonell, Lucia L; Sanchez-Heras, Ana-Beatriz AB; Segura, Angel A; Ochoa, Enrique E; Lazaro, Rafael R; Ruiz-Ponte, Clara C; Bujanda, Luis L; Andreu, Montserrat M; Castells, Antoni A; Carracedo, Angel A; Llor, Xavier X; Clofent, Juan J; Alenda, Cristina C; Paya, Artemio A; Jover, Rodrigo R; Soto, Jose-Luis JL

Publication Date: 2011-01-19

Variant appearance in text: MSH2: 767C>T

PubMed Link: 21247423

Variant Present in the following documents:

• Main text
• 1471-2350-12-12.pdf

View BVdb publication page