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BAP1 Cancer Syndrome

MedGen UID:
852388
•Concept ID:
CN235077
•
Disease or Syndrome

Professional guidelines

PubMed

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
Lalloo F, Kulkarni A, Chau C, Nielsen M, Sheaff M, Steele J, van Doorn R, Wadt K, Hamill M, Torr B, Tischkowitz M; Delphi respondents, Hanson H
Eur J Hum Genet 2023 Nov;31(11):1261-1269. Epub 2023 Aug 22 doi: 10.1038/s41431-023-01448-z. PMID: 37607989Free PMC Article
New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ
Mod Pathol 2021 Jul;34(7):1392-1424. Epub 2021 Mar 4 doi: 10.1038/s41379-021-00779-w. PMID: 33664427
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article

Recent clinical studies

Etiology

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
Haugh AM, Njauw CN, Bubley JA, Verzì AE, Zhang B, Kudalkar E, VandenBoom T, Walton K, Swick BL, Kumar R, Rana HQ, Cochrane S, McCormick SR, Shea CR, Tsao H, Gerami P
JAMA Dermatol 2017 Oct 1;153(10):999-1006. doi: 10.1001/jamadermatol.2017.2330. PMID: 28793149Free PMC Article
Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma.
Sneddon S, Leon JS, Dick IM, Cadby G, Olsen N, Brims F, Allcock RJ, Moses EK, Melton PE, de Klerk N, Musk AW, Robinson BW, Creaney J
Gene 2015 May 25;563(1):103-5. Epub 2015 Mar 18 doi: 10.1016/j.gene.2015.03.031. PMID: 25796603
Germline BAP1 mutations predispose also to multiple basal cell carcinomas.
de la Fouchardière A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V, Soufir N, Bressac-de Paillerets B
Clin Genet 2015 Sep;88(3):273-7. Epub 2014 Sep 8 doi: 10.1111/cge.12472. PMID: 25080371
Ocular melanoma and the BAP1 hereditary cancer syndrome: implications for the dermatologist.
Martorano LM, Winkelmann RR, Cebulla CM, Abdel-Rahman MH, Campbell SM
Int J Dermatol 2014 Jun;53(6):657-63. Epub 2014 Apr 2 doi: 10.1111/ijd.12386. PMID: 24697775
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs.
Carbone M, Ferris LK, Baumann F, Napolitano A, Lum CA, Flores EG, Gaudino G, Powers A, Bryant-Greenwood P, Krausz T, Hyjek E, Tate R, Friedberg J, Weigel T, Pass HI, Yang H
J Transl Med 2012 Aug 30;10:179. doi: 10.1186/1479-5876-10-179. PMID: 22935333Free PMC Article

Diagnosis

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
Carbone M, Pass HI, Ak G, Alexander HR Jr, Baas P, Baumann F, Blakely AM, Bueno R, Bzura A, Cardillo G, Churpek JE, Dianzani I, De Rienzo A, Emi M, Emri S, Felley-Bosco E, Fennell DA, Flores RM, Grosso F, Hayward NK, Hesdorffer M, Hoang CD, Johansson PA, Kindler HL, Kittaneh M, Krausz T, Mansfield A, Metintas M, Minaai M, Mutti L, Nielsen M, O'Byrne K, Opitz I, Pastorino S, Pentimalli F, de Perrot M, Pritchard A, Ripley RT, Robinson B, Rusch V, Taioli E, Takinishi Y, Tanji M, Tsao AS, Tuncer AM, Walpole S, Wolf A, Yang H, Yoshikawa Y, Zolondick A, Schrump DS, Hassan R
J Thorac Oncol 2022 Jul;17(7):873-889. Epub 2022 Apr 21 doi: 10.1016/j.jtho.2022.03.014. PMID: 35462085Free PMC Article
Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article
Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.
Rusch A, Ziltener G, Nackaerts K, Weder W, Stahel RA, Felley-Bosco E
Lung Cancer 2015 Jan;87(1):77-9. Epub 2014 Nov 6 doi: 10.1016/j.lungcan.2014.10.017. PMID: 25468148
Germline BAP1 mutations predispose also to multiple basal cell carcinomas.
de la Fouchardière A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V, Soufir N, Bressac-de Paillerets B
Clin Genet 2015 Sep;88(3):273-7. Epub 2014 Sep 8 doi: 10.1111/cge.12472. PMID: 25080371
Ocular melanoma and the BAP1 hereditary cancer syndrome: implications for the dermatologist.
Martorano LM, Winkelmann RR, Cebulla CM, Abdel-Rahman MH, Campbell SM
Int J Dermatol 2014 Jun;53(6):657-63. Epub 2014 Apr 2 doi: 10.1111/ijd.12386. PMID: 24697775

Therapy

Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article
III Italian Consensus Conference on Malignant Mesothelioma of the Pleura. Epidemiology, Public Health and Occupational Medicine related issues.
Magnani C, Bianchi C, Chellini E, Consonni D, Fubini B, Gennaro V, Marinaccio A, Menegozzo M, Mirabelli D, Merler E, Merletti F, Musti M, Oddone E, Romanelli A, Terracini B, Zona A, Zocchetti C, Alessi M, Baldassarre A, Dianzani I, Maule M, Mensi C, Silvestri S
Med Lav 2015 Sep 9;106(5):325-32. PMID: 26384258
Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma.
Sneddon S, Leon JS, Dick IM, Cadby G, Olsen N, Brims F, Allcock RJ, Moses EK, Melton PE, de Klerk N, Musk AW, Robinson BW, Creaney J
Gene 2015 May 25;563(1):103-5. Epub 2015 Mar 18 doi: 10.1016/j.gene.2015.03.031. PMID: 25796603

Prognosis

Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article
Germline mutation in the TP53 gene in uveal melanoma.
Hajkova N, Hojny J, Nemejcova K, Dundr P, Ulrych J, Jirsova K, Glezgova J, Ticha I
Sci Rep 2018 May 16;8(1):7618. doi: 10.1038/s41598-018-26040-0. PMID: 29769598Free PMC Article
Ocular melanoma and the BAP1 hereditary cancer syndrome: implications for the dermatologist.
Martorano LM, Winkelmann RR, Cebulla CM, Abdel-Rahman MH, Campbell SM
Int J Dermatol 2014 Jun;53(6):657-63. Epub 2014 Apr 2 doi: 10.1111/ijd.12386. PMID: 24697775
Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.
Cheung M, Talarchek J, Schindeler K, Saraiva E, Penney LS, Ludman M, Testa JR
Cancer Genet 2013 May;206(5):206-10. doi: 10.1016/j.cancergen.2013.05.018. PMID: 23849051

Clinical prediction guides

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
Carbone M, Pass HI, Ak G, Alexander HR Jr, Baas P, Baumann F, Blakely AM, Bueno R, Bzura A, Cardillo G, Churpek JE, Dianzani I, De Rienzo A, Emi M, Emri S, Felley-Bosco E, Fennell DA, Flores RM, Grosso F, Hayward NK, Hesdorffer M, Hoang CD, Johansson PA, Kindler HL, Kittaneh M, Krausz T, Mansfield A, Metintas M, Minaai M, Mutti L, Nielsen M, O'Byrne K, Opitz I, Pastorino S, Pentimalli F, de Perrot M, Pritchard A, Ripley RT, Robinson B, Rusch V, Taioli E, Takinishi Y, Tanji M, Tsao AS, Tuncer AM, Walpole S, Wolf A, Yang H, Yoshikawa Y, Zolondick A, Schrump DS, Hassan R
J Thorac Oncol 2022 Jul;17(7):873-889. Epub 2022 Apr 21 doi: 10.1016/j.jtho.2022.03.014. PMID: 35462085Free PMC Article
Roles and mechanisms of BAP1 deubiquitinase in tumor suppression.
Masclef L, Ahmed O, Estavoyer B, Larrivée B, Labrecque N, Nijnik A, Affar EB
Cell Death Differ 2021 Feb;28(2):606-625. Epub 2021 Jan 18 doi: 10.1038/s41418-020-00709-4. PMID: 33462414Free PMC Article
Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article
Germline BAP1 mutations predispose also to multiple basal cell carcinomas.
de la Fouchardière A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V, Soufir N, Bressac-de Paillerets B
Clin Genet 2015 Sep;88(3):273-7. Epub 2014 Sep 8 doi: 10.1111/cge.12472. PMID: 25080371
Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.
Cheung M, Talarchek J, Schindeler K, Saraiva E, Penney LS, Ludman M, Testa JR
Cancer Genet 2013 May;206(5):206-10. doi: 10.1016/j.cancergen.2013.05.018. PMID: 23849051

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