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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

BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
West EC, Chiappetta M, Mattingly AA, Congedo MT, Evangelista J, Campanella A, Sassorossi C, Flamini S, Rossi T, Pistoni M, Abenavoli L, Margaritora S, Lococo F, Boccuto L
Clin Genet 2024 Jun;105(6):589-595. Epub 2024 Mar 20 doi: 10.1111/cge.14507. PMID: 38506155
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

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.
Lebensohn A, Ghafoor A, Bloomquist L, Royer MC, Castelo-Soccio L, Karacki K, Hathaway O, Maglo T, Wagner C, Agra MG, Blakely AM, Schrump DS, Hassan R, Cowen EW
JAMA Dermatol 2024 Aug 1;160(8):838-845. doi: 10.1001/jamadermatol.2024.1804. PMID: 38759225Free PMC Article
BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
West EC, Chiappetta M, Mattingly AA, Congedo MT, Evangelista J, Campanella A, Sassorossi C, Flamini S, Rossi T, Pistoni M, Abenavoli L, Margaritora S, Lococo F, Boccuto L
Clin Genet 2024 Jun;105(6):589-595. Epub 2024 Mar 20 doi: 10.1111/cge.14507. PMID: 38506155
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
BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.
Albright BB, Wignall E, Bentley RC, Havrilesky LJ, Previs RA, Strickland KC
Int J Gynecol Pathol 2023 Jan 1;42(1):83-88. Epub 2022 May 20 doi: 10.1097/PGP.0000000000000855. PMID: 35348477Free PMC Article
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

Diagnosis

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.
Lebensohn A, Ghafoor A, Bloomquist L, Royer MC, Castelo-Soccio L, Karacki K, Hathaway O, Maglo T, Wagner C, Agra MG, Blakely AM, Schrump DS, Hassan R, Cowen EW
JAMA Dermatol 2024 Aug 1;160(8):838-845. doi: 10.1001/jamadermatol.2024.1804. PMID: 38759225Free PMC Article
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
BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.
Albright BB, Wignall E, Bentley RC, Havrilesky LJ, Previs RA, Strickland KC
Int J Gynecol Pathol 2023 Jan 1;42(1):83-88. Epub 2022 May 20 doi: 10.1097/PGP.0000000000000855. PMID: 35348477Free PMC Article
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
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

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

BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
West EC, Chiappetta M, Mattingly AA, Congedo MT, Evangelista J, Campanella A, Sassorossi C, Flamini S, Rossi T, Pistoni M, Abenavoli L, Margaritora S, Lococo F, Boccuto L
Clin Genet 2024 Jun;105(6):589-595. Epub 2024 Mar 20 doi: 10.1111/cge.14507. PMID: 38506155
Functional assay for assessment of pathogenicity of BAP1 variants.
Repo PE, Backlund MP, Kivelä TT, Turunen JA
Hum Mol Genet 2024 Feb 18;33(5):426-434. doi: 10.1093/hmg/ddad193. PMID: 37956408Free PMC Article
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
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

Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series.
Miranda J, Dave P, Kemel Y, Sheikh R, Zong G, Calderon LP, Will M, Liu YL, Walsh M, Stadler ZK, Offit K, Latham A, Mandelker D, Chen YB, Andrieu PC, Carlo MI
Eur J Hum Genet 2024 Aug;32(8):1027-1031. Epub 2024 Jun 1 doi: 10.1038/s41431-024-01623-w. PMID: 38824259Free PMC Article
BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
West EC, Chiappetta M, Mattingly AA, Congedo MT, Evangelista J, Campanella A, Sassorossi C, Flamini S, Rossi T, Pistoni M, Abenavoli L, Margaritora S, Lococo F, Boccuto L
Clin Genet 2024 Jun;105(6):589-595. Epub 2024 Mar 20 doi: 10.1111/cge.14507. PMID: 38506155
Mutational signature of extracranial meningioma metastases and their respective primary tumors.
Biczok A, Thorsteinsdottir J, Karschnia P, Ruf VC, Tonn JC, Herms J, Schichor C, Dorostkar MM
Acta Neuropathol Commun 2023 Jan 14;11(1):12. doi: 10.1186/s40478-023-01505-0. PMID: 36641486Free PMC Article
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

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