Tumor predisposition syndrome 3

Synonyms: Glioma susceptibility 9; LONG TELOMERE SYNDROME, POT1-RELATED; Melanoma, cutaneous malignant, susceptibility to, 10

Summary

POT1 tumor predisposition (POT1-TPD) is characterized by an increased lifetime risk for multiple cutaneous melanomas, chronic lymphocytic leukemia (CLL), angiosarcoma (particularly cardiac angiosarcomas), and gliomas. Additional cancers (e.g., colorectal cancer, thyroid cancer, breast angiosarcomas) have been reported in individuals with POT1-TPD but with very limited evidence. The age of onset for first primary cutaneous melanoma ranges from 15 to 80 years. The majority of POT1 associated cancers are diagnosed in adulthood. [from GeneReviews]

Available tests

42 tests are in the database for this condition.

Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

POT1
104 tests
Also known as: CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3, POT1
Summary: protection of telomeres 1

Imported from Human Phenotype Ontology (HPO)

Show all Hide all

Neoplasm
- Gastrointestinal desmoid tumor
  Gastrointestinal desmoid tumor
  - MedGen UID: 1054917
  - Concept ID: CN378841
  - Finding: Finding
  Neoplasm
  See: Feature record | Search on this feature
- Melanoma
  Melanoma
  - MedGen UID: 9944
  - Concept ID: C0025202
  - Finding: Neoplastic Process
  Neoplasm
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.