MSH2 c.1_59del ;(p.M1_?20)

Variant ID: 2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C

NM_000251.2(MSH2):c.1_59del;(p.M1_?20)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine
Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2016-03

Variant appearance in text: MSH2: 1_2458del
PubMed Link: 27064304
Variant Present in the following documents:
  • Main text
  • MGG3-4-223.pdf
View BVdb publication page



High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

Familial Cancer
Rosty, Christophe C; Walsh, Michael D MD; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Mundt, Erin E; Gallinger, Steven S; Aronson, Melyssa M; Pollett, Aaron A; Baron, John A JA; Pearson, Sally S; Clendenning, Mark M; Walters, Rhiannon J RJ; Nagler, Belinda N BN; Crawford, William J WJ; Young, Joanne P JP; Winship, Ingrid I; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD
Publication Date: 2014-12

Variant appearance in text: MSH2: Met1_Gln462del
PubMed Link: 25117503
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: 1_1386del
PubMed Link: 19698169
Variant Present in the following documents:
  • Main text
  • 1897-4287-7-14.pdf
View BVdb publication page