Lynch syndrome 4
MONDO:0013699Mondo
Findings
No curated finding names Lynch syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 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.
Definition from the Mondo Disease Ontology (MONDO:0013699), read 2026-09-29. CC BY 4.0.
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.
- PMS2HGNC:9122
- Definitive · G2P · Autosomal dominant · 2024
- 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 4
- Also called
- colorectal cancer, hereditary nonpolyposis, type 4hereditary nonpolyposis colon cancer caused by mutation in PMS2PMS2 hereditary nonpolyposis colon cancerPMS2-related Lynch syndrome