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: 2201C>A; Ser734Tyr

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: S734Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Microsatellite instability in prostate cancer by PCR or next-generation sequencing.

Journal For Immunotherapy Of Cancer

Hempelmann, Jennifer A JA; Lockwood, Christina M CM; Konnick, Eric Q EQ; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES; Lotan, Tamara L TL; Montgomery, Bruce B; Nelson, Peter S PS; Klemfuss, Nola N; Salipante, Stephen J SJ; Pritchard, Colin C CC

Publication Date: 2018-04-17

Variant appearance in text: MSH2: S734Y

PubMed Link: 29665853

Variant Present in the following documents:

• 40425_2018_341_MOESM2_ESM.xlsx, sheet 2

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MSH2 Loss in Primary Prostate Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Guedes, Liana B LB; Antonarakis, Emmanuel S ES; Schweizer, Michael T MT; Mirkheshti, Nooshin N; Almutairi, Fawaz F; Park, Jong Chul JC; Glavaris, Stephanie S; Hicks, Jessica J; Eisenberger, Mario A MA; De Marzo, Angelo M AM; Epstein, Jonathan I JI; Isaacs, William B WB; Eshleman, James R JR; Pritchard, Colin C CC; Lotan, Tamara L TL

Publication Date: 2017-11-15

Variant appearance in text: MSH2: 2201C>A; S734Y

PubMed Link: 28790115

Variant Present in the following documents:

• Main text

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