MSH2 c.2178G>C ;(p.M726I)

Variant ID: 2-47703678-G-C

NM_000251.2(MSH2):c.2178G>C;(p.M726I)

This variant was identified in 10 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: 2178G>C; Met726Ile; rs587782396
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Nature Communications
Möhrmann, Lino L; Werner, Maximilian M; Oleś, Małgorzata M; Mock, Andreas A; Uhrig, Sebastian S; Jahn, Arne A; Kreutzfeldt, Simon S; Fröhlich, Martina M; Hutter, Barbara B; Paramasivam, Nagarajan N; Richter, Daniela D; Beck, Katja K; Winter, Ulrike U; Pfütze, Katrin K; Heilig, Christoph E CE; Teleanu, Veronica V; Lipka, Daniel B DB; Zapatka, Marc M; Hanf, Dorothea D; List, Catrin C; Allgäuer, Michael M; Penzel, Roland R; Rüter, Gina G; Jelas, Ivan I; Hamacher, Rainer R; Falkenhorst, Johanna J; Wagner, Sebastian S; Brandts, Christian H CH; Boerries, Melanie M; Illert, Anna L AL; Metzeler, Klaus H KH; Westphalen, C Benedikt CB; Desuki, Alexander A; Kindler, Thomas T; Folprecht, Gunnar G; Weichert, Wilko W; Brors, Benedikt B; Stenzinger, Albrecht A; Schröck, Evelin E; Hübschmann, Daniel D; Horak, Peter P; Heining, Christoph C; Fröhling, Stefan S; Glimm, Hanno H
Publication Date: 2022-08-02

Variant appearance in text: MSH2: 2178G>C; M726I
PubMed Link: 35918329
Variant Present in the following documents:
  • 41467_2022_31866_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance.

Cancer Medicine
Brady, Lauren L; Newcomb, Lisa F LF; Zhu, Kehao K; Zheng, Yingye Y; Boyer, Hilary H; Sarkar, Navonil De N; McKenney, Jesse K JK; Brooks, James D JD; Carroll, Peter R PR; Dash, Atreya A; Ellis, William J WJ; Filson, Christopher P CP; Gleave, Martin E ME; Liss, Michael A MA; Martin, Frances F; Morgan, Todd M TM; Thompson, Ian M IM; Wagner, Andrew A AA; Pritchard, Colin C CC; Lin, Daniel W DW; Nelson, Peter S PS
Publication Date: 2022-11

Variant appearance in text: MSH2: 2178G>C; Met726Ile
PubMed Link: 35467778
Variant Present in the following documents:
  • CAM4-11-4332-s001.xls, sheet 1
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: 2178G>C; M726I; rs587782396
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



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: MSH2: 2178G>C; M726I
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Frontiers In Oncology
Nikitin, Aleksey G AG; Chudakova, Daria A DA; Enikeev, Rafael F RF; Sakaeva, Dina D; Druzhkov, Maxim M; Shigapova, Leyla H LH; Brovkina, Olga I OI; Shagimardanova, Elena I EI; Gusev, Oleg A OA; Gordiev, Marat G MG
Publication Date: 2020

Variant appearance in text: MSH2: 2178G>C
PubMed Link: 32547938
Variant Present in the following documents:
  • Main text
  • fonc-10-00666.pdf
View BVdb publication page



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: M726I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: 2178G>C; Met726Ile
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MSH2: M726I
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.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: 2178G>C; Met726Ile
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page