Lynch syndrome 5
Findings
No curated finding names Lynch syndrome 5 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 MSH6 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 occuring at younger ages.
Definition from the Mondo Disease Ontology (MONDO:0013710), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Endometrial carcinomaHPOHP:0012114
- Hereditary nonpolyposis colorectal carcinomaHPOHP:0006716
- Neoplasm of the pancreasHPOHP:0002894
- Ovarian neoplasmHPOHP:0100615
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.
- MSH6HGNC:7329
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: Lynch syndrome 5
- Also called
- colorectal cancer, hereditary nonpolyposis, type 5hereditary nonpolyposis colon cancer caused by mutation in MSH6MSH6 hereditary nonpolyposis colon cancerMSH6-related Lynch Syndrome