Features include always present findings: Axillary freckling, Multiple cafe-au-lait spots, and Lisch nodules; and common findings: Colon cancer, Astrocytoma, Glioblastoma multiforme, and T-cell lymphoma and others. 9 total HPO annotations.

MSH6 encodes mutS homolog 6 (1,360 aa). Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. Highest expression in Ovary (40.1 TPM) and Testis (29.0 TPM).

Mismatch repair cancer syndrome 3 is associated with mutations in the MSH6 gene on chromosome 2.

The MSH6 protein participates in Defective Mismatch Repair Associated With MSH6, Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), and Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathways.

MSH6 is classified as a druggable target (Clinically Actionable and Dna Repair categories) with score 6.5.

Genetic testing for MSH6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mismatch repair cancer syndrome 3 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 5 common features.

No clinical trials have been registered for mismatch repair cancer syndrome 3.

68 publications have been identified in PubMed for mismatch repair cancer syndrome 3. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (18%).