Publications:

Unexplained mismatch repair deficiency: Case closed.

Hgg Advances

Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A

Publication Date: 2023-01-12

Variant appearance in text: MSH2: 2767G>A; Val923Ile

PubMed Link: 36624813

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

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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: 2767G>A; Val923Ile

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Cancers

Olkinuora, Alisa A; Gylling, Annette A; Almusa, Henrikki H; Eldfors, Samuli S; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Nieminen, Taina Tuulikki TT; Peltomäki, Päivi P

Publication Date: 2020-07-09

Variant appearance in text: MSH2: 2767G>A; Val923Ile

PubMed Link: 32660107

Variant Present in the following documents:

• Main text
• cancers-12-01853.pdf

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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications

Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM

Publication Date: 2019-12-16

Variant appearance in text: MSH2: V923I

PubMed Link: 31844068

Variant Present in the following documents:

• 41467_2019_13732_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page