Publications:

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: MSH2: 232G>A; V78I; rs772779997

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.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: 232G>A; V78I

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: HNPCC1: V78I

PubMed Link: 34253785

Variant Present in the following documents:

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

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: 232G>A; Val78Ile; rs772779997

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 2

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: V78I

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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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: MSH2: 232G>A; Val78Ile

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Bmc Cancer

Lu, Hongyang H; Yang, Shifeng S; Zhu, Huineng H; Tong, Xiaoling X; Xie, Fajun F; Qin, Jing J; Han, Na N; Wu, Xue X; Fan, Yun Y; Shao, Yang W YW; Mao, Weimin W

Publication Date: 2018-03-05

Variant appearance in text: MSH2: V78I

PubMed Link: 29506494

Variant Present in the following documents:

• Main text
• 12885_2018_4159_MOESM2_ESM.xlsx, sheet 1
• 12885_2018_Article_4159.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MSH2: 232G>A; Val78Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 232G>A

PubMed Link: 26900293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.

Scientific Reports

Yu, Yang Y; Dong, Li L; Li, Dapeng D; Chuai, Shaokun S; Wu, Zhigang Z; Zheng, Xiangqian X; Cheng, Yanan Y; Han, Lei L; Yu, Jinpu J; Gao, Ming M

Publication Date: 2015-11-04

Variant appearance in text: MSH2: V78I

PubMed Link: 26530882

Variant Present in the following documents:

• Main text
• srep16129-s2.xls, sheet 1
• srep16129.pdf

View BVdb publication page

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