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Page 1
Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI. Carlo MI. Hematol Oncol Clin North Am. 2023 Oct;37(5):841-848. doi: 10.1016/j.hoc.2023.04.013. Epub 2023 May 29. Hematol Oncol Clin North Am. 2023. PMID: 37258351 Review.
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. West EC, et al. Clin Genet. 2024 Jun;105(6):589-595. doi: 10.1111/cge.14507. Epub 2024 Mar 20. Clin Genet. 2024. PMID: 38506155 Review.
Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). ...
Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition …
Advances in pathological diagnosis of mesothelioma: what pulmonologists should know.
Louw A, Badiei A, Creaney J, Chai MS, Lee YCG. Louw A, et al. Curr Opin Pulm Med. 2019 Jul;25(4):354-361. doi: 10.1097/MCP.0000000000000578. Curr Opin Pulm Med. 2019. PMID: 31169558 Review.
The prognostic values of these molecules are being investigated. Clinicians should be aware of the recently described BAP1 tumor predisposition syndrome and offer genetic investigations in potential patients. ...
The prognostic values of these molecules are being investigated. Clinicians should be aware of the recently described BAP1 tumor …
Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
Kerr K, Qualmann K, Esquenazi Y, Hagan J, Kim DH. Kerr K, et al. Neurosurgery. 2018 Dec 1;83(6):1107-1118. doi: 10.1093/neuros/nyy121. Neurosurgery. 2018. PMID: 29660026 Free PMC article. Review.
Other important familial diseases with increased meningioma risk include nevoid basal cell carcinoma syndrome, multiple endocrine neoplasia 1 (MEN1), Cowden syndrome, Werner syndrome, BAP1 tumor predisposition syndrome, Rubinstein-Taybi syndrome, and f …
Other important familial diseases with increased meningioma risk include nevoid basal cell carcinoma syndrome, multiple endocrine neoplasia …
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. Albright BB, et al. Int J Gynecol Pathol. 2023 Jan 1;42(1):83-88. doi: 10.1097/PGP.0000000000000855. Epub 2022 May 20. Int J Gynecol Pathol. 2023. PMID: 35348477 Free PMC article.
Here, we describe the case of a 52-yr-old woman who experienced multiple abdominal recurrences of an ovarian sex cord-stromal tumor that was originally diagnosed at age 25 and who was found to have a germline mutation in BAP1 and a family history consistent with BAP1 tu …
Here, we describe the case of a 52-yr-old woman who experienced multiple abdominal recurrences of an ovarian sex cord-stromal tumor that was …
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, cutaneou …
BACKGROUND: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumo …
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. Gupta S, et al. JAMA Netw Open. 2021 Nov 1;4(11):e2132615. doi: 10.1001/jamanetworkopen.2021.32615. JAMA Netw Open. 2021. PMID: 34767027 Free PMC article.
IMPORTANCE: In BAP1 tumor predisposition syndrome, clear cell renal cell carcinoma (RCC) is frequently associated with melanoma and/or mesothelioma, while germline MITF p.E318K alterations are being increasingly reported in melanoma/RCC. ...
IMPORTANCE: In BAP1 tumor predisposition syndrome, clear cell renal cell carcinoma (RCC) is frequently associate …
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. Zaayman M, et al. J Dermatolog Treat. 2022 Jun;33(4):1855-1860. doi: 10.1080/09546634.2021.1939847. Epub 2021 Jun 23. J Dermatolog Treat. 2022. PMID: 34106034 Review.
OBJECTIVE: BRCA1-associated protein 1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for aggressive cancers. ...
OBJECTIVE: BRCA1-associated protein 1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is associated with an inc …
22 results