Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: MSH2: H46Q

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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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: 138C>A; H46Q

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Hypermutated phenotype in gliosarcoma of the spinal cord.

Npj Precision Oncology

Hong, Christopher S CS; Kuzmik, Gregory A GA; Kundishora, Adam J AJ; Elsamadicy, Aladine A AA; Koo, Andrew B AB; McGuone, Declan D; Blondin, Nicholas A NA; DiLuna, Michael L ML; Erson-Omay, E Zeynep EZ

Publication Date: 2021-02-12

Variant appearance in text: MSH2: H46Q

PubMed Link: 33580181

Variant Present in the following documents:

• Main text
• 41698_2021_Article_143.pdf

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: MSH2: H46Q

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1
• pgen.1007352.s009.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget

Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD

Publication Date: 2017-11-07

Variant appearance in text: MSH2: H46Q

PubMed Link: 29212164

Variant Present in the following documents:

• Main text
• oncotarget-08-93450.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH2: H46Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

British Journal Of Cancer

Pal, T T; Akbari, M R MR; Sun, P P; Lee, J-H JH; Fulp, J J; Thompson, Z Z; Coppola, D D; Nicosia, S S; Sellers, T A TA; McLaughlin, J J; Risch, H A HA; Rosen, B B; Shaw, P P; Schildkraut, J J; Narod, S A SA

Publication Date: 2012-11-06

Variant appearance in text: MSH2: His46Gln

PubMed Link: 23047549

Variant Present in the following documents:

• bjc2012452a.pdf

View BVdb publication page

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