MSH2 c.965G>T ;(p.G322V)

Variant ID: 2-47643457-G-T

NM_000251.2(MSH2):c.965G>T;(p.G322V)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSH2: 965G>T; G322V; rs4987188
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



RosettaDDGPrediction for high-throughput mutational scans: from stability to binding.

Protein Science : A Publication Of The Protein Society
Sora, Valentina V; Otamendi Laspiur, Adrian A; Degn, Kristine K; Arnaudi, Matteo M; Utichi, Mattia M; Beltrame, Ludovica L; De Menezes, Dayana D; Orlandi, Matteo M; Stoltze, Ulrik Kristoffer UK; Rigina, Olga O; Sackett, Peter Wad PW; Wadt, Karin K; Schmiegelow, Kjeld K; Tiberti, Matteo M; Papaleo, Elena E
Publication Date: 2022-12-03

Variant appearance in text: MSH2: G322V
PubMed Link: 36461907
Variant Present in the following documents:
  • Main text
  • PRO-32-e4527.pdf
View BVdb publication page



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: G322V; rs4987188
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: MSH2: 965G>T; G322V
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: 965G>T; G322V
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Journal Of Genomics
Laraqui, Abdelilah A; Cavaillé, Mathias M; Uhrhammer, Nancy N; ElBiad, Oubaida O; Bidet, Yannick Y; El Rhaffouli, Hicham H; El Anaz, Hicham H; Rahali, Driss Moussaoui DM; Kouach, Jaouad J; Guelzim, Khaled K; Badaoui, Bouabid B; AlBouzidi, Abderrahman A; Oukabli, Mohammed M; Tanz, Rachid R; Sbitti, Yasser Y; Ichou, Mohammed M; Ennibi, Khaled K; Sekhsokh, Yassine Y; Bignon, Yves-Jean YJ
Publication Date: 2021

Variant appearance in text: MSH2: 965G>T; Gly322Val; rs4987188
PubMed Link: 34646395
Variant Present in the following documents:
  • Main text
  • jgenv09p0043.pdf
View BVdb publication page



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: 965G>T; G322V; rs4987188
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



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: rs4987188
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 2
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: rs4987188
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between single nucleotide polymorphism of DNA repair genes and endometrial cancer: a case-control study.

International Journal Of Clinical And Experimental Pathology
Smolarz, Beata B; Romanowicz, Hanna H
Publication Date: 2018

Variant appearance in text: rs4987188
PubMed Link: 31938277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice
Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA
Publication Date: 2019

Variant appearance in text: rs4987188
PubMed Link: 31660093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.

Endocrinology, Diabetes & Metabolism
Larouche, Vincent V; Akirov, Amit A; Thain, Emily E; Kim, Raymond H RH; Ezzat, Shereen S
Publication Date: 2019-10

Variant appearance in text: MSH2: Gly322Val
PubMed Link: 31592449
Variant Present in the following documents:
  • Main text
  • EDM2-2-e00092.pdf
View BVdb publication page



Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer
Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G
Publication Date: 2019-06-03

Variant appearance in text: MSH2: 965G>T; Gly322Val; rs4987188
PubMed Link: 31159747
Variant Present in the following documents:
  • 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer
Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C
Publication Date: 2019

Variant appearance in text: rs4987188
PubMed Link: 31031852
Variant Present in the following documents:
  • Main text
  • jcav10p1417.pdf
View BVdb publication page



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: 965G>T; Gly322Val
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Polymorphism of DNA repair genes in breast cancer.

Oncotarget
Smolarz, Beata B; Michalska, Magdalena M MM; Samulak, Dariusz D; Romanowicz, Hanna H; Wójcik, Luiza L
Publication Date: 2019-01-11

Variant appearance in text: rs4987188
PubMed Link: 30728902
Variant Present in the following documents:
  • Main text
  • oncotarget-10-527.pdf
View BVdb publication page



A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Plos Computational Biology
Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R
Publication Date: 2018-02

Variant appearance in text: rs4987188
PubMed Link: 29415044
Variant Present in the following documents:
  • pcbi.1005965.s007.pdf
View BVdb publication page



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: 965G>T; Gly322Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10

Variant appearance in text: rs4987188
PubMed Link: 24326041
Variant Present in the following documents:
  • bcr3584-S1.pdf
View BVdb publication page



DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics
Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C
Publication Date: 2013

Variant appearance in text: rs4987188
PubMed Link: 23565320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between the hMSH2 IVS12-6 T>C polymorphism and cancer risk: A meta-analysis.

Experimental And Therapeutic Medicine
Wu, Song S; Chen, Jingyu J; Ji, Yong Y; Liu, Yuxin Y; Gao, Lu L; Chen, Guoqiang G; Shen, Kai K; Huang, Bin B
Publication Date: 2011-11

Variant appearance in text: rs4987188
PubMed Link: 22977643
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One
Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS
Publication Date: 2010-08-18

Variant appearance in text: rs4987188
PubMed Link: 20805886
Variant Present in the following documents:
  • pone.0012260.s004.pdf
View BVdb publication page



Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

Hereditary Cancer In Clinical Practice
Choi, Yun-Hee YH; Cotterchio, Michelle M; McKeown-Eyssen, Gail G; Neerav, Monga M; Bapat, Bharati B; Boyd, Kevin K; Gallinger, Steven S; McLaughlin, John J; Aronson, Melyssa M; Briollais, Laurent L
Publication Date: 2009-08-23

Variant appearance in text: MSH2: 965G>T
PubMed Link: 19698169
Variant Present in the following documents:
  • Main text
  • 1897-4287-7-14.pdf
View BVdb publication page