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Yang, C. BAP1 Tumor Predisposition Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4912 (accessed on 28 September 2026).
Yang C. BAP1 Tumor Predisposition Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4912. Accessed September 28, 2026.
Yang, Catherine. "BAP1 Tumor Predisposition Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4912 (accessed September 28, 2026).
Yang, C. (2020, December 24). BAP1 Tumor Predisposition Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4912
Yang, Catherine. "BAP1 Tumor Predisposition Syndrome." Encyclopedia. Web. 24 December, 2020.
BAP1 Tumor Predisposition Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome

BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.

genetic conditions

References

  1. Baumann F, Flores E, Napolitano A, Kanodia S, Taioli E, Pass H, Yang H,Carbone M. Mesothelioma patients with germline BAP1 mutations have 7-foldimproved long-term survival. Carcinogenesis. 2015 Jan;36(1):76-81. doi:10.1093/carcin/bgu227.
  2. Cheung M, Kadariya Y, Talarchek J, Pei J, Ohar JA, Kayaleh OR, Testa JR.Germline BAP1 mutation in a family with high incidence of multiple primarycancers and a potential gene-environment interaction. Cancer Lett. 2015 Dec28;369(2):261-5. doi: 10.1016/j.canlet.2015.09.011.
  3. Mochel MC, Piris A, Nose V, Hoang MP. Loss of BAP1 Expression in Basal CellCarcinomas in Patients With Germline BAP1 Mutations. Am J Clin Pathol. 2015Jun;143(6):901-4. doi: 10.1309/AJCPG8LFJC0DHDQT.
  4. Ohar JA, Cheung M, Talarchek J, Howard SE, Howard TD, Hesdorffer M, Peng H,Rauscher FJ, Testa JR. Germline BAP1 Mutational Landscape of Asbestos-ExposedMalignant Mesothelioma Patients with Family History of Cancer. Cancer Res. 2016Jan 15;76(2):206-15. doi: 10.1158/0008-5472.CAN-15-0295.Erratum in: Cancer Res. 2017 Jun 1;77(11):3124. Cancer Res. 2018 Jan 1;78(1):309.
  5. Pilarski R, Carlo M, Cebulla C, Abdel-Rahman M. BAP1 Tumor PredispositionSyndrome. 2016 Oct 13 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK390611/
  6. Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C,Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L,Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P,Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O,Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B,Stoppa-Lyonnet D, Stern MH. Germline BAP1 mutations predispose to renal cellcarcinomas. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi:10.1016/j.ajhg.2013.04.012.
  7. Rai K, Pilarski R, Boru G, Rehman M, Saqr AH, Massengill JB, Singh A, MarinoMJ, Davidorf FH, Cebulla CM, H Abdel-Rahman M. Germline BAP1 alterations infamilial uveal melanoma. Genes Chromosomes Cancer. 2017 Feb;56(2):168-174. doi:10.1002/gcc.22424.
  8. Rai K, Pilarski R, Cebulla CM, Abdel-Rahman MH. Comprehensive review of BAP1tumor predisposition syndrome with report of two new cases. Clin Genet. 2016Mar;89(3):285-94. doi: 10.1111/cge.12630.
  9. Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C,Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A,Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, BastianBC, Speicher MR. Germline mutations in BAP1 predispose to melanocytic tumors. NatGenet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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