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BAP1 Tumor Predisposition Syndrome

MedGen UID:
1631254
•Concept ID:
C4707290
•
Neoplastic Process
Synonyms: BAP1 tumor predisposition syndrome; BAP1-related tumor predisposition syndrome; BRCA1 associated protein 1 tumor predisposition syndrome; Tumor susceptibility associated with germline BAP1 mutation
SNOMED CT: BAP1-related tumor predisposition syndrome (765057007); Tumor susceptibility associated with germline BAP1 mutation (765057007); BAP1 tumor predisposition syndrome (765057007); BRCA1 associated protein 1 tumor predisposition syndrome (765057007)

Definition

A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi /melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018) [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBAP1 Tumor Predisposition Syndrome

Professional guidelines

PubMed

Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates.
Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW
Discov Med 2022 Nov-Dec;34(173):205-220. PMID: 36602871
Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.
Gupta S, Erickson LA, Lohse CM, Shen W, Pitel BA, Knight SM, Halling KC, Herrera-Hernandez L, Boorjian SA, Thompson RH, Leibovich BC, Jimenez RE, Cheville JC
JAMA Netw Open 2021 Nov 1;4(11):e2132615. doi: 10.1001/jamanetworkopen.2021.32615. PMID: 34767027Free PMC Article

Recent clinical studies

Etiology

Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.
Singh N, Singh R, Bowen RC, Abdel-Rahman MH, Singh AD
Am J Ophthalmol 2021 Apr;224:172-177. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.12.005. PMID: 33316260Free PMC Article
Advances in pathological diagnosis of mesothelioma: what pulmonologists should know.
Louw A, Badiei A, Creaney J, Chai MS, Lee YCG
Curr Opin Pulm Med 2019 Jul;25(4):354-361. doi: 10.1097/MCP.0000000000000578. PMID: 31169558
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK
J Natl Cancer Inst 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. PMID: 30517737Free PMC Article
Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
Kerr K, Qualmann K, Esquenazi Y, Hagan J, Kim DH
Neurosurgery 2018 Dec 1;83(6):1107-1118. doi: 10.1093/neuros/nyy121. PMID: 29660026Free PMC Article

Diagnosis

Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.
Singh N, Singh R, Bowen RC, Abdel-Rahman MH, Singh AD
Am J Ophthalmol 2021 Apr;224:172-177. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.12.005. PMID: 33316260Free PMC Article
Advances in pathological diagnosis of mesothelioma: what pulmonologists should know.
Louw A, Badiei A, Creaney J, Chai MS, Lee YCG
Curr Opin Pulm Med 2019 Jul;25(4):354-361. doi: 10.1097/MCP.0000000000000578. PMID: 31169558
Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
Kerr K, Qualmann K, Esquenazi Y, Hagan J, Kim DH
Neurosurgery 2018 Dec 1;83(6):1107-1118. doi: 10.1093/neuros/nyy121. PMID: 29660026Free PMC Article
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
Rai K, Pilarski R, Cebulla CM, Abdel-Rahman MH
Clin Genet 2016 Mar;89(3):285-94. Epub 2015 Jul 14 doi: 10.1111/cge.12630. PMID: 26096145Free PMC Article

Therapy

Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.
Singh N, Singh R, Bowen RC, Abdel-Rahman MH, Singh AD
Am J Ophthalmol 2021 Apr;224:172-177. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.12.005. PMID: 33316260Free PMC Article
Intrahepatic cholangiocarcinoma development in a patient with a novel BAP1 germline mutation and low exposure to asbestos.
Brandi G, Deserti M, Palloni A, Turchetti D, Zuntini R, Pedica F, Frega G, De Lorenzo S, Abbati F, Rizzo A, Di Marco M, Massari F, Tavolari S
Cancer Genet 2020 Oct;248-249:57-62. Epub 2020 Oct 11 doi: 10.1016/j.cancergen.2020.10.001. PMID: 33093002
Advances in pathological diagnosis of mesothelioma: what pulmonologists should know.
Louw A, Badiei A, Creaney J, Chai MS, Lee YCG
Curr Opin Pulm Med 2019 Jul;25(4):354-361. doi: 10.1097/MCP.0000000000000578. PMID: 31169558
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.
Betti M, Aspesi A, Ferrante D, Sculco M, Righi L, Mirabelli D, Napoli F, Rondón-Lagos M, Casalone E, Vignolo Lutati F, Ogliara P, Bironzo P, Gironi CL, Savoia P, Maffè A, Ungari S, Grosso F, Libener R, Boldorini R, Valiante M, Pasini B, Matullo G, Scagliotti G, Magnani C, Dianzani I
Genes Chromosomes Cancer 2018 Nov;57(11):573-583. doi: 10.1002/gcc.22670. PMID: 30338612

Prognosis

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
Abbassi YA, Le Guin C, Bornfeld N, Bechrakis NE, Zeschnigk M, Lohmann DR
Fam Cancer 2023 Apr;22(2):193-202. Epub 2022 Aug 3 doi: 10.1007/s10689-022-00310-3. PMID: 35920959Free PMC Article
BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome.
Zaayman M, Nguyen P, Silfvast-Kaiser A, Frieder J, West C, Tumminello K, Paek SY
J Dermatolog Treat 2022 Jun;33(4):1855-1860. Epub 2021 Jun 23 doi: 10.1080/09546634.2021.1939847. PMID: 34106034
GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME.
Masoomian B, Shields CL, Mashayekhi A, Ganguly A, Shields JA
Retin Cases Brief Rep 2021 Mar 1;15(2):93-96. doi: 10.1097/ICB.0000000000000772. PMID: 29994997
BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy.
Soares de Sá BC, de Macedo MP, Torrezan GT, Braga JCT, Fidalgo F, Moredo LF, Lellis R, Duprat JP, Carraro DM
BMC Cancer 2019 Nov 9;19(1):1077. doi: 10.1186/s12885-019-6226-8. PMID: 31706282Free PMC Article
Advances in pathological diagnosis of mesothelioma: what pulmonologists should know.
Louw A, Badiei A, Creaney J, Chai MS, Lee YCG
Curr Opin Pulm Med 2019 Jul;25(4):354-361. doi: 10.1097/MCP.0000000000000578. PMID: 31169558

Clinical prediction guides

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
Abbassi YA, Le Guin C, Bornfeld N, Bechrakis NE, Zeschnigk M, Lohmann DR
Fam Cancer 2023 Apr;22(2):193-202. Epub 2022 Aug 3 doi: 10.1007/s10689-022-00310-3. PMID: 35920959Free PMC Article
BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome.
Zaayman M, Nguyen P, Silfvast-Kaiser A, Frieder J, West C, Tumminello K, Paek SY
J Dermatolog Treat 2022 Jun;33(4):1855-1860. Epub 2021 Jun 23 doi: 10.1080/09546634.2021.1939847. PMID: 34106034
GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME.
Masoomian B, Shields CL, Mashayekhi A, Ganguly A, Shields JA
Retin Cases Brief Rep 2021 Mar 1;15(2):93-96. doi: 10.1097/ICB.0000000000000772. PMID: 29994997
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.
Melzer C, Sharma A, Peters S, Aretz S, Biswas A, Holz FG, Loeffler KU, Herwig-Carl MC
Genes Chromosomes Cancer 2019 Jun;58(6):357-364. Epub 2019 Jan 23 doi: 10.1002/gcc.22724. PMID: 30578689
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients.
Massengill JB, Sample KM, Pilarski R, McElroy J, Davidorf FH, Cebulla CM, Abdel-Rahman MH
Genes Chromosomes Cancer 2018 Sep;57(9):478-481. Epub 2018 Jul 30 doi: 10.1002/gcc.7. PMID: 29761599Free PMC Article

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