Publications:

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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: 619G>T; Ala207Ser

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: 619G>T; Ala207Ser; rs63750913

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: MSH2: 619G>T; Ala207Ser; rs63750913

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 2

View BVdb publication page

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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Bmc Medical Genomics

Alfares, Ahmed A; Alsubaie, Lamia L; Aloraini, Taghrid T; Alaskar, Aljoharah A; Althagafi, Azza A; Alahmad, Ahmed A; Rashid, Mamoon M; Alswaid, Abdulrahman A; Alothaim, Ali A; Eyaid, Wafaa W; Ababneh, Faroug F; Albalwi, Mohammed M; Alotaibi, Raniah R; Almutairi, Mashael M; Altharawi, Nouf N; Alsamer, Alhanouf A; Abdelhakim, Marwa M; Kafkas, Senay S; Mineta, Katsuhiko K; Cheung, Nicole N; Abdallah, Abdallah M AM; Büchmann-Møller, Stine S; Fukasawa, Yoshinori Y; Zhao, Xiang X; Rajan, Issaac I; Hoehndorf, Robert R; Al Mutairi, Fuad F; Gojobori, Takashi T; Alfadhel, Majid M

Publication Date: 2020-07-17

Variant appearance in text: MSH2: 619G>T; Ala207Ser

PubMed Link: 32680510

Variant Present in the following documents:

• 12920_2020_743_MOESM3_ESM.xlsx, sheet 1

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: A207S

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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Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters

Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP

Publication Date: 2013-05

Variant appearance in text: MSH2: 619G>T; Ala207Ser

PubMed Link: 23760103

Variant Present in the following documents:

• Main text
• ol-05-05-1710.pdf

View BVdb publication page

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