MLH1 c.94_110del ;(p.I32Efs*15)

Variant ID: 3-37035132-TATCAAAGAGATGATTGA-T

NM_000249.3(MLH1):c.94_110del;(p.I32Efs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research
Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID
Publication Date: 2022-03

Variant appearance in text: MLH1: 94_110del; Ile32Glufs*15
PubMed Link: 34873870
Variant Present in the following documents:
  • Main text
  • CJP2-8-181.pdf
  • CJP2-8-181-s002.xlsx, sheet 1
View BVdb publication page



Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research
Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID
Publication Date: 2021-12-06

Variant appearance in text: MLH1: 94_110del; Ile32Glufs*15
PubMed Link: 34873870
Variant Present in the following documents:
  • Main text
  • CJP2-8-181.pdf
  • CJP2-8-181-s002.xlsx, sheet 1
View BVdb publication page



Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas.

Journal Of Clinical Pathology
Suerink, Manon M; Kilinç, Gül G; Terlouw, Diantha D; Hristova, Hristina H; Sensuk, Lily L; van Egmond, Demi D; Farina Sarasqueta, Arantza A; Langers, Alexandra M J AMJ; van Wezel, Tom T; Morreau, Hans H; Nielsen, Maartje M; ,
Publication Date: 2021-11

Variant appearance in text: MLH1: 94_110del
PubMed Link: 33046565
Variant Present in the following documents:
  • jclinpath-2020-207040supp003.pdf
View BVdb publication page