MLH1 c.1162dup ;(p.S388Ffs*7)

Variant ID: 3-37067249-A-AT

NM_000249.3(MLH1):c.1162dup;(p.S388Ffs*7)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)
Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL
Publication Date: 2021-03

Variant appearance in text: MLH1: 1162dup; Ser388Phefs
PubMed Link: 33630411
Variant Present in the following documents:
  • CAC2-41-218-s001.xlsx, sheet 1
  • CAC2-41-218-s001.xlsx, sheet 3
View BVdb publication page



Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report.

Molecular And Clinical Oncology
Takeda, Takashi T; Banno, Kouji K; Yanokura, Megumi M; Anko, Mayuka M; Kobayashi, Arata A; Sera, Asako A; Takahashi, Takayuki T; Adachi, Masataka M; Kobayashi, Yusuke Y; Hayashi, Shigenori S; Nomura, Hiroyuki H; Hirasawa, Akira A; Tominaga, Eiichiro E; Aoki, Daisuke D
Publication Date: 2018-11

Variant appearance in text: MLH1: 1162dup
PubMed Link: 30402230
Variant Present in the following documents:
  • Main text
  • mco-09-05-0479.pdf
View BVdb publication page



Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.

Bmc Medical Genomics
Cheng, Donavan T DT; Prasad, Meera M; Chekaluk, Yvonne Y; Benayed, Ryma R; Sadowska, Justyna J; Zehir, Ahmet A; Syed, Aijazuddin A; Wang, Yan Elsa YE; Somar, Joshua J; Li, Yirong Y; Yelskaya, Zarina Z; Wong, Donna D; Robson, Mark E ME; Offit, Kenneth K; Berger, Michael F MF; Nafa, Khedoudja K; Ladanyi, Marc M; Zhang, Liying L
Publication Date: 2017-05-19

Variant appearance in text: N/A
PubMed Link: 28526081
Variant Present in the following documents:
View BVdb publication page