BAP1-related tumor predisposition syndrome
- Synonyms
- BAP1 tumor predisposition syndrome; COMMON Syndrome; TUMOR PREDISPOSITION SYNDROME 1; Tumor predisposition syndrome; Tumor susceptibility linked to germline BAP1 mutations
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), and basal cell carcinoma (BCC). Hepatocellular carcinoma, cholangiocarcinoma, and meningioma may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. Due to the limited number of families reported to date, the penetrance, natural history, and frequencies of BAP1-associated tumors are yet to be determined. Other suspected but unconfirmed tumors in BAP1-TPDS include (in alphabetic order): breast cancer, neuroendocrine carcinoma, non-small-cell lung adenocarcinoma, thyroid cancer, and urinary bladder cancer.
- 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:
- Robert Pilarski
- Maria I Carlo
- Colleen Cebulla
- view full author information
Available tests
57 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (57 available)
Clinical features
Help- Abnormality of the eye
- Uveal melanoma
Uveal melanoma
- MedGen UID: 65077
- Concept ID: C0220633
- Finding: Neoplastic Process
Abnormality of the eye
- Uveal melanoma
- Abnormality of the nervous system
- Meningioma
Meningioma
- MedGen UID: 7532
- Concept ID: C0025286
- Finding: Neoplastic Process
Abnormality of the nervous system
- Meningioma
- Neoplasm
- Lung adenocarcinoma
Lung adenocarcinoma
- MedGen UID: 57744
- Concept ID: C0152013
- Finding: Neoplastic Process
Neoplasm
- Malignant melanoma of skin
Malignant melanoma of skin
- MedGen UID: 57486
- Concept ID: C0151779
- Finding: Neoplastic Process
Neoplasm
- Mesothelioma, malignant
Mesothelioma, malignant
- MedGen UID: 91062
- Concept ID: C0345967
- Finding: Neoplastic Process
Neoplasm
- Renal cell carcinoma
Renal cell carcinoma
- MedGen UID: 766
- Concept ID: C0007134
- Finding: Neoplastic Process
Neoplasm
- Lung adenocarcinoma
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