MSH2 c.638dup ;(p.R214Efs*18)

Variant ID: 2-47637503-C-CT

NM_000251.2(MSH2):c.638dup;(p.R214Efs*18)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Publication Date: 2017-09-05

Variant appearance in text: MSH2: 638dupT
PubMed Link: 28874130
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3599.pdf
View BVdb publication page



Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.

Gastroenterology Research And Practice
Moreno-Ortiz, Jose Miguel JM; Ayala-Madrigal, María de la Luz Mde L; Corona-Rivera, Jorge Román JR; Centeno-Flores, Manuel M; Maciel-Gutiérrez, Víctor V; Franco-Topete, Ramón Antonio RA; Armendáriz-Borunda, Juan J; Hotchkiss, Erin E; Pérez-Carbonell, Lucia L; Rhees, Jennifer J; Boland, Clement Richard CR; Gutiérrez-Angulo, Melva M
Publication Date: 2016

Variant appearance in text: MSH2: 638dupT
PubMed Link: 27247567
Variant Present in the following documents:
  • Main text
  • GRP2016-5278024.pdf
View BVdb publication page