mismatch repair cancer syndrome 1
Findings
No curated finding names mismatch repair cancer syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
Definition from the Mondo Disease Ontology (MONDO:0010159), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Multiple cafe-au-lait spotsHPOHP:0007565
- 20 of 21 reported patients
- AstrocytomaHPOHP:0009592
- 11 of 13 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 3 reported patients
- Gray matter heterotopiaHPOHP:0002282
- 2 of 3 reported patients
- T-cell lymphomaHPOHP:0012190
- 2 of 3 reported patients
- Adenomatous colonic polyposisHPOHP:0005227
- 9 of 18 reported patients
- Glioblastoma multiformeHPO
Show the remaining 6
- OligodendrogliomaHPOHP:0033681
- 2 of 18 reported patients
- Adenocarcinoma of the colonHPOHP:0040276
- 1 of 18 reported patients
- LeukemiaHPOHP:0001909
- 1 of 18 reported patients
- Pleomorphic xanthoastrocytomaHPOHP:0033682
- 1 of 18 reported patients
- Plexiform neurofibromaHPOHP:0009732
- 1 of 18 reported patients
- MedulloblastomaHPOHP:0002885
Genes
4 genes
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 recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- MSH2HGNC:7325
- Definitive · ClinGen · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- MSH6HGNC:7329
- Definitive · ClinGen · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: mismatch repair cancer syndrome 1
- Also called
- brain tumor-polyposis syndrome 1BTP1 syndromeMLH1-related constitutional mismatch repair deficiency syndromeMMRCS1Turcot Syndrome