Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MSH2: G25D; rs767747378

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.

Cancers

Yang, Richard K RK; Chen, Hui H; Roy-Chowdhuri, Sinchita S; Rashid, Asif A; Alvarez, Hector H; Routbort, Mark M; Patel, Keyur P KP; Luthra, Raja R; Medeiros, L Jeffrey LJ; Toruner, Gokce A GA

Publication Date: 2022-09-20

Variant appearance in text: MSH2: 74G>A; G25D

PubMed Link: 36230473

Variant Present in the following documents:

• cancers-14-04550.pdf

View BVdb publication page

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BAT26 Only Microsatellite Instability with High Tumor Mutation Burden-A Rare Entity Associated with PTEN Protein Loss and High PD-L1 Expression.

International Journal Of Molecular Sciences

Kang, So Young SY; Kim, Deok Geun DG; Kim, Kyoung-Mee KM

Publication Date: 2022-09-14

Variant appearance in text: MSH2: G25D

PubMed Link: 36142641

Variant Present in the following documents:

• Main text
• ijms-23-10730.pdf

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: 74G>A; Gly25Asp

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH2: 74G>A; Gly25Asp; rs767747378

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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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: G25D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology

Chang, Yuli Christine YC; Chang, Jan-Gowth JG; Liu, Ta-Chih TC; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chen, William Tzu-Liang WT; Chang, Ya-Sian YS

Publication Date: 2016-02-21

Variant appearance in text: MSH2: 74G>A; Gly25Asp

PubMed Link: 26900293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: MSH2: 74G>A; Gly25Asp

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.

Gastroenterology And Hepatology From Bed To Bench

Kashfi, Seyed Mohammad Hossein SM; Golmohammadi, Mina M; Behboudi, Faeghe F; Nazemalhosseini-Mojarad, Ehsan E; Zali, Mohammad Reza MR

Publication Date: 2013

Variant appearance in text: MSH2: G25D

PubMed Link: 24834277

Variant Present in the following documents:

• Main text
• GHFBB-6-S001.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MSH2: G25D

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis.

Familial Cancer

Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA

Publication Date: 2011-03

Variant appearance in text: MSH2: G25D

PubMed Link: 21061173

Variant Present in the following documents:

• Main text

View BVdb publication page

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