MSH2 c.136_164del ;(p.H46Gfs*26)

Variant ID: 2-47630463-GCGCACGGCGAGGACGCGCTGCTGGCCGCC-G

NM_000251.2(MSH2):c.136_164del;(p.H46Gfs*26)

This variant was identified in 4 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: 136_164del; His46fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, 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: 136_164del; His46Glyfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Familial Cancer
Win, Aung Ko AK; Reece, Jeanette C JC; Buchanan, Daniel D DD; Clendenning, Mark M; Young, Joanne P JP; Cleary, Sean P SP; Kim, Hyeja H; Cotterchio, Michelle M; Dowty, James G JG; MacInnis, Robert J RJ; Tucker, Katherine M KM; Winship, Ingrid M IM; Macrae, Finlay A FA; Burnett, Terrilea T; Le Marchand, Loïc L; Casey, Graham G; Haile, Robert W RW; Newcomb, Polly A PA; Thibodeau, Stephen N SN; Lindor, Noralane M NM; Hopper, John L JL; Gallinger, Steven S; Jenkins, Mark A MA
Publication Date: 2015-12

Variant appearance in text: MSH2: 136_164del
PubMed Link: 26202870
Variant Present in the following documents:
  • Main text
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: 136_164del
PubMed Link: 19698169
Variant Present in the following documents:
  • Main text
  • 1897-4287-7-14.pdf
View BVdb publication page