BAP1 tumour predisposition syndrome
Zuletzt aktualisiert 27 Mar 2023
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BAP1 tumour predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumours, most commonly certain types of tumours 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 tumour, and affected members of the same family can have different types.
Beschreibung
BAP1 tumour predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumours, most commonly certain types of tumours 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 tumour, and affected members of the same family can have different types.
Some people with BAP1 tumour predisposition syndrome develop growths in the skin known as atypical Spitz tumours. People with this syndrome may have more than one of these tumours, and they can have dozens. Atypical Spitz tumours are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumour predisposition syndrome, including cutaneous melanoma and basal cell carcinoma.
A type of eye cancer called uveal melanoma is the most common cancerous tumour in BAP1 tumour predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.
Menschen mit BAP1 tumour predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumour predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura).
A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumour predisposition syndrome.
When they occur in people with BAP1 tumour predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumours in BAP1 tumour predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumour predisposition syndrome appear to survive longer than those who have the cancer without the syndrome.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
BAP1-related tumour predisposition syndrome
BAP1-TPDS
COMMON syndrome
Cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms
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Weiterführende Lektüre und Referenzen
- BAP1 tumour predisposition syndrome; MedlinePlus, National Library of Medicine.
- Baumann F, Flores E, Napolitano A, Kanodia S, Taioli E, Pass H, Yang H, Carbone M. Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival. Carcinogenesis. 2015 Jan;36(1):76-81. doi: 10.1093/carcin/bgu227. Epub 2014 Nov 7.
- 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 primary cancers and a potential gene-environment interaction. Cancer Lett. 2015 Dec 28;369(2):261-5. doi: 10.1016/j.canlet.2015.09.011. Epub 2015 Sep 26.
- Mochel MC, Piris A, Nose V, Hoang MP. Loss of BAP1 Expression in Basal Cell Carcinomas in Patients With Germline BAP1 Mutations. Am J Clin Pathol. 2015 Jun;143(6):901-4. doi: 10.1309/AJCPG8LFJC0DHDQT.
- Ohar JA, Cheung M, Talarchek J, Howard SE, Howard TD, Hesdorffer M, Peng H, Rauscher FJ, Testa JR. Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. Cancer Res. 2016 Jan 15;76(2):206-15. doi: 10.1158/0008-5472.CAN-15-0295. Epub 2015 Dec 30.
- Pilarski R, Byrne L, Carlo MI, Hanson H, Cebulla C, Abdel-Rahman M. BAP1 Tumor Predisposition Syndrome. 2016 Oct 13 [updated 2024 Dec 5]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK390611/
- 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, Manie 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 cell carcinomas. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16.
- Rai K, Pilarski R, Boru G, Rehman M, Saqr AH, Massengill JB, Singh A, Marino MJ, Davidorf FH, Cebulla CM, H Abdel-Rahman M. Germline BAP1 alterations in familial uveal melanoma. Genes Chromosomes Cancer. 2017 Feb;56(2):168-174. doi: 10.1002/gcc.22424. Epub 2016 Oct 26.
- Rai K, Pilarski R, Cebulla CM, Abdel-Rahman MH. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. Clin Genet. 2016 Mar;89(3):285-94. doi: 10.1111/cge.12630. Epub 2015 Jul 14.
- 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, Rutten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910.
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27 Mar 2023 | Neueste Version
1 Jan 2017 | Ursprünglich veröffentlicht
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