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Page 1
Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma.
Masoomian B, Shields JA, Shields CL. Masoomian B, et al. J Curr Ophthalmol. 2018 Mar 22;30(2):102-109. doi: 10.1016/j.joco.2018.02.005. eCollection 2018 Jun. J Curr Ophthalmol. 2018. PMID: 29988936 Free PMC article. Review.
PURPOSE: The aim of this study was to review the genetics, epidemiology, clinical findings, and management of BRCA1-associated protein-1 (BAP1) cancer predisposition syndrome, particularly focusing on the development of uveal melanoma (UM). ...Patients and fa …
PURPOSE: The aim of this study was to review the genetics, epidemiology, clinical findings, and management of BRCA1-associated protein-1 ( …
Uveal melanoma.
Jager MJ, Shields CL, Cebulla CM, Abdel-Rahman MH, Grossniklaus HE, Stern MH, Carvajal RD, Belfort RN, Jia R, Shields JA, Damato BE. Jager MJ, et al. Nat Rev Dis Primers. 2020 Apr 9;6(1):24. doi: 10.1038/s41572-020-0158-0. Nat Rev Dis Primers. 2020. PMID: 32273508 Review.
Risk factors include fair skin, light-coloured eyes, congenital ocular melanocytosis, ocular melanocytoma and the BAP1-tumour predisposition syndrome. Ocular treatment aims at preserving the eye and useful vision and, if possible, preventing metastases. ...
Risk factors include fair skin, light-coloured eyes, congenital ocular melanocytosis, ocular melanocytoma and the BAP1-tumour predisp …
BAP1 Tumor Predisposition Syndrome.
Pilarski R, Byrne L, Carlo MI, Hanson H, Cebulla C, Abdel-Rahman M. Pilarski R, et al. 2016 Oct 13 [updated 2024 Dec 5]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Oct 13 [updated 2024 Dec 5]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 27748099 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers …
CLINICAL CHARACTERISTICS: BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a spe …
BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome.
Blatnik A, Ribnikar D, Šetrajčič Dragoš V, Novaković S, Stegel V, Grčar Kuzmanov B, Boc N, Perić B, Škerl P, Klančar G, Krajc M. Blatnik A, et al. Breast Cancer. 2022 Sep;29(5):921-927. doi: 10.1007/s12282-022-01354-0. Epub 2022 Apr 5. Breast Cancer. 2022. PMID: 35381901 Free PMC article.
BAP1 cancer syndrome is a rare and highly penetrant hereditary cancer predisposition. ...We present a case of a patient with BAP1 cancer syndrome who developed a metastatic breast cancer with loss of BAP1 demonstrated …
BAP1 cancer syndrome is a rare and highly penetrant hereditary cancer predisposition. ...We present a case of a …
Germline mutations predisposing to melanoma.
Toussi A, Mans N, Welborn J, Kiuru M. Toussi A, et al. J Cutan Pathol. 2020 Jul;47(7):606-616. doi: 10.1111/cup.13689. Epub 2020 May 11. J Cutan Pathol. 2020. PMID: 32249949 Free PMC article. Review.
CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1, MITF, MC1R, and BAP1. Additionally, melanoma risk is increased in mixed cancer …
CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent …
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. Walpole S, et al. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
BACKGROUND: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, c …
BACKGROUND: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor sy …
An overview of BAP1 biological functions and current therapeutics.
Elsayed AM, Kittaneh M, Cebulla CM, Abdel-Rahman MH. Elsayed AM, et al. Biochim Biophys Acta Rev Cancer. 2025 Apr;1880(2):189267. doi: 10.1016/j.bbcan.2025.189267. Epub 2025 Jan 21. Biochim Biophys Acta Rev Cancer. 2025. PMID: 39842618 Free PMC article. Review.
BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene that was first identified in 1998. Germline loss-of-function variants in BAP1 are associated with a tumor predisposition syndrome with at least four cancers: uveal melanoma (UM), malignant me …
BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene that was first identified in 1998. Germline loss-of-function variants in …
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P. Leachman SA, et al. Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. Cancer Metastasis Rev. 2017. PMID: 28283772 Free PMC article.
Syndromes in which melanoma is a predominant cancer type are considered melanoma dominant, although other cancers, such as mesothelioma or pancreatic cancers, may also be observed. These syndromes are associated with defects in CDKN2A, CDK4, …
Syndromes in which melanoma is a predominant cancer type are considered melanoma dominant, although other cancers, such …
265 results