MSH2 c.649dup ;(p.I217Nfs*15)

Variant ID: 2-47639554-T-TA

NM_000251.2(MSH2):c.649dup;(p.I217Nfs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Frontiers In Oncology
Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X
Publication Date: 2022

Variant appearance in text: MSH2: 649dupA; Ile217Asnfs*15
PubMed Link: 36457512
Variant Present in the following documents:
  • Main text
  • fonc-12-1014859.pdf
View BVdb publication page



Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers
de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT
Publication Date: 2020-07-09

Variant appearance in text: MSH2: 649dupA; Ile217Asnfs*15
PubMed Link: 32659967
Variant Present in the following documents:
  • Main text
  • cancers-12-01848.pdf
View BVdb publication page