Details of Disease

General Information of Disease (ID: DISO4FCC)

• Disease Name: BAP1-related tumor predisposition syndrome
• Synonyms: TPDS; BAP1 tumor predisposition syndrome; tumor predisposition syndrome; tumour predisposition syndrome; BAP1 tumour predisposition syndrome; tumour susceptibility linked to germline BAP1 mutations; BAP1-related tumor predisposition syndrome; tumor susceptibility linked to germline BAP1 mutations
• Definition: BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
• Disease Hierarchy:
  DISGXLG5: Hereditary neoplastic syndrome
  DISO4FCC: BAP1-related tumor predisposition syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013692
  UMLS CUI: C3280492
  OMIM ID: 614327
  MedGen ID: 482122
  Orphanet ID: 289539

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BAP1	TT47RXJ	Definitive	Autosomal dominant	[1]
BAP1	TT47RXJ	Definitive	Biomarker	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FH	OTEQWU6Q	moderate	Genetic Variation	[3]
KIAA1549	OTA5B18F	moderate	Genetic Variation	[4]
BAP1	OTS8G0EN	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS.Genes Chromosomes Cancer. 2019 Jun;58(6):357-364. doi: 10.1002/gcc.22724. Epub 2019 Jan 23.
• [3] No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2.
• [4] The molecular and cell biology of pediatric low-grade gliomas.Oncogene. 2014 Apr 17;33(16):2019-26. doi: 10.1038/onc.2013.148. Epub 2013 Apr 29.