Lynch syndrome 2
Findings
No curated finding names Lynch syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occurring at younger ages.
Definition from the Mondo Disease Ontology (MONDO:0012249), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MLH1HGNC:7127
- Definitive · Ambry Genetics · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
6 names
Resolves to: Lynch syndrome 2
- Also called
- colorectal cancer, hereditary nonpolyposis, type 2familial non-polyposis colon cancer type 2Hereditary non-polyposis colon cancer type 2Hereditary nonpolyposis colorectal cancer type 2Lynch 2 syndromeMLH1-related Lynch syndrome