MLH1 c.1024del ;(p.M342Cfs*25)

Variant ID: 3-37061940-GA-G

NM_000249.3(MLH1):c.1024del;(p.M342Cfs*25)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: MLH1: 1024del; Met342Cysfs*25
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_63.pdf
View BVdb publication page



Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

International Journal Of Cancer
Sakai, Eiji E; Fukuyo, Masaki M; Ohata, Ken K; Matsusaka, Keisuke K; Doi, Noriteru N; Mano, Yasunobu Y; Takane, Kiyoko K; Abe, Hiroyuki H; Yagi, Koichi K; Matsuhashi, Nobuyuki N; Fukushima, Junichi J; Fukayama, Masashi M; Akagi, Kiwamu K; Aburatani, Hiroyuki H; Nakajima, Atsushi A; Kaneda, Atsushi A
Publication Date: 2016-04-01

Variant appearance in text: MLH1: 1024_1024delA
PubMed Link: 26510091
Variant Present in the following documents:
  • IJC-138-1634-s001.pdf
View BVdb publication page



Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.

Familial Cancer
Cruz-Correa, Marcia M; Diaz-Algorri, Yaritza Y; Pérez-Mayoral, Julyann J; Suleiman-Suleiman, Wasilah W; Gonzalez-Pons, Maria del Mar Mdel M; Bertrán, Carlos C; Casellas, Nicolás N; Rodríguez, Natalia N; Pardo, Sherly S; Rivera, Keyla K; Mosquera, Rafael R; Rodriguez-Quilichini, Segundo S
Publication Date: 2015-09

Variant appearance in text: MLH1: 1024del
PubMed Link: 25782445
Variant Present in the following documents:
  • Main text
View BVdb publication page