MSH2 c.1A>C ;(p.M1?)

Variant ID: 2-47630331-A-C

NM_000251.2(MSH2):c.1A>C;(p.M1?)

This variant was identified in 13 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: 1A>C; Met1Leu; rs267607911
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.

Ecancermedicalscience
Mittal, Abhenil A; Deo, S V S SVS; Gogia, Ajay A; Batra, Atul A; Kumar, Akash A; Bhoriwal, Sandeep S; Deb, Koushik Sinha KS; Dhamija, Ekta E; Ramprasad, V L VL; Olopade, Olufunmilayo O; Pramanik, Raja R
Publication Date: 2022

Variant appearance in text: MSH2: 1A>C
PubMed Link: 36200007
Variant Present in the following documents:
  • can-16-1434.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: N/A
PubMed Link: 34253785
Variant Present in the following documents:
View BVdb publication page



The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications
Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2021-02-12

Variant appearance in text: rs267607911
PubMed Link: 33579957
Variant Present in the following documents:
  • 41467_2021_21255_MOESM15_ESM.xlsx, sheet 1
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: 1A>C
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



The effects of genomic germline variant reclassification on clinical cancer care.

Oncotarget
Slavin, Thomas P TP; Manjarrez, Sophia S; Pritchard, Colin C CC; Gray, Stacy S; Weitzel, Jeffrey N JN
Publication Date: 2019-01-11

Variant appearance in text: MSH2: Met1Leu
PubMed Link: 30728895
Variant Present in the following documents:
  • Main text
  • oncotarget-10-417.pdf
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: MSH-2: M1L
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

The Lancet. Gastroenterology & Hepatology
Fewings, Eleanor E; Larionov, Alexey A; Redman, James J; Goldgraben, Mae A MA; Scarth, James J; Richardson, Susan S; Brewer, Carole C; Davidson, Rosemarie R; Ellis, Ian I; Evans, D Gareth DG; Halliday, Dorothy D; Izatt, Louise L; Marks, Peter P; McConnell, Vivienne V; Verbist, Louis L; Mayes, Rebecca R; Clark, Graeme R GR; Hadfield, James J; Chin, Suet-Feung SF; Teixeira, Manuel R MR; Giger, Olivier T OT; Hardwick, Richard R; di Pietro, Massimiliano M; O'Donovan, Maria M; Pharoah, Paul P; Caldas, Carlos C; Fitzgerald, Rebecca C RC; Tischkowitz, Marc M
Publication Date: 2018-07

Variant appearance in text: rs267607911
PubMed Link: 29706558
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: MSH2: 1A>C
PubMed Link: 28944238
Variant Present in the following documents:
  • Main text
  • MGG3-5-553.pdf
  • MGG3-5-553-s002.xlsx, sheet 1
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: 1A>C; Met1Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Human Genetics
Yang, Xiaohong R XR; Rotunno, Melissa M; Xiao, Yanzi Y; Ingvar, Christian C; Helgadottir, Hildur H; Pastorino, Lorenza L; van Doorn, Remco R; Bennett, Hunter H; Graham, Cole C; Sampson, Joshua N JN; Malasky, Michael M; Vogt, Aurelie A; Zhu, Bin B; Bianchi-Scarra, Giovanna G; Bruno, William W; Queirolo, Paola P; Fornarini, Giuseppe G; Hansson, Johan J; Tuominen, Rainer R; Burdett, Laurie L; Hicks, Belynda B; Hutchinson, Amy A; Jones, Kristine K; Yeager, Meredith M; Chanock, Stephen J SJ; Landi, Maria Teresa MT; Höiom, Veronica V; Olsson, Håkan H; Gruis, Nelleke N; Ghiorzo, Paola P; Tucker, Margaret A MA; Goldstein, Alisa M AM
Publication Date: 2016-11

Variant appearance in text: rs267607911
PubMed Link: 27449771
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1A>C; Met1Leu
PubMed Link: 23047549
Variant Present in the following documents:
  • Main text
View BVdb publication page



The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.

Molecular Carcinogenesis
Cyr, Jennifer L JL; Brown, Graham D GD; Stroop, Jennifer J; Heinen, Christopher D CD
Publication Date: 2012-08

Variant appearance in text: MSH2: 1A>C
PubMed Link: 21837758
Variant Present in the following documents:
  • Main text
View BVdb publication page