Tumor predisposition syndrome 3

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

Summary

Excerpted from the GeneReview: POT1 Tumor Predisposition

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.

Full text of GeneReview (by section):: Summary; Diagnosis; Clinical Characteristics; Genetically Related (Allelic) Disorders; Differential Diagnosis; Management; Genetic Counseling; Resources; Molecular Genetics; Chapter Notes; References

Authors:: Marie-Louise Henry; Jenae Osborne; Tobias Else; view full author information

Available tests

40 tests are in the database for this condition.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

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

Imported from Human Phenotype Ontology (HPO)

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Neoplasm
- Desmoid tumor
  Desmoid tumor
  - MedGen UID: 38187
  - Concept ID: C0079218
  - Finding: Neoplastic Process
  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

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