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Year Number of Results
2011 1
2012 1
2013 5
2014 4
2015 6
2016 7
2017 4
2018 7
2019 7
2020 6
2021 7
2022 6
2023 5
2024 2

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60 results

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Page 1
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 …
BAP1: Not just a BRCA1-associated protein.
Louie BH, Kurzrock R. Louie BH, et al. Cancer Treat Rev. 2020 Nov;90:102091. doi: 10.1016/j.ctrv.2020.102091. Epub 2020 Aug 20. Cancer Treat Rev. 2020. PMID: 32877777 Free PMC article. Review.
Importantly, germline mutations in the BAP1 gene have been established as a novel tumor predisposition syndrome, conferring an increased risk of hereditary, early-onset cancers. Current treatment options for cancers with BAP1 alterations are lim …
Importantly, germline mutations in the BAP1 gene have been established as a novel tumor predisposition syndrome, conferring an …
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 …
Roles and mechanisms of BAP1 deubiquitinase in tumor suppression.
Masclef L, Ahmed O, Estavoyer B, Larrivée B, Labrecque N, Nijnik A, Affar EB. Masclef L, et al. Cell Death Differ. 2021 Feb;28(2):606-625. doi: 10.1038/s41418-020-00709-4. Epub 2021 Jan 18. Cell Death Differ. 2021. PMID: 33462414 Free PMC article. Review.
BAP1 mutations are also observed at low frequency in other malignancies including breast, colorectal, pancreatic, and bladder cancers. BAP1 germline mutations are associated with high incidence of mesothelioma, uveal melanoma, and other cancers, defini
BAP1 mutations are also observed at low frequency in other malignancies including breast, colorectal, pancreatic, and bladder canc
Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.
Carbone M, Harbour JW, Brugarolas J, Bononi A, Pagano I, Dey A, Krausz T, Pass HI, Yang H, Gaudino G. Carbone M, et al. Cancer Discov. 2020 Aug;10(8):1103-1120. doi: 10.1158/2159-8290.CD-19-1220. Epub 2020 Jul 20. Cancer Discov. 2020. PMID: 32690542 Free PMC article. Review.
Among more than 200 BAP1-mutant families affected by the "BAP1 cancer syndrome," nearly all individuals inheriting a BAP1 mutant allele developed one or more malignancies during their lifetime, mostly uveal and cutaneous melanoma, mesothelioma, …
Among more than 200 BAP1-mutant families affected by the "BAP1 cancer syndrome," nearly all individuals inheriti …
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. Carbone M, et al. CA Cancer J Clin. 2019 Sep;69(5):402-429. doi: 10.3322/caac.21572. Epub 2019 Jul 8. CA Cancer J Clin. 2019. PMID: 31283845 Free PMC article. Review.
Novel immunohistochemical and molecular markers have improved the accuracy of diagnosis; however, about 14% (high-resource countries) to 50% (developing countries) of mesothelioma diagnoses are incorrect, resulting in inadequate treatment and complicating epidemiological studies. …
Novel immunohistochemical and molecular markers have improved the accuracy of diagnosis; however, about 14% (high-resource countries) to 50% …
Melanoma genetics.
Read J, Wadt KA, Hayward NK. Read J, et al. J Med Genet. 2016 Jan;53(1):1-14. doi: 10.1136/jmedgenet-2015-103150. Epub 2015 Sep 3. J Med Genet. 2016. PMID: 26337759 Review.
In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed in melanoma families at rates greater than expected by chance. The most extensively documented association …
In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with …
Ocular melanoma and the BAP1 hereditary cancer syndrome: implications for the dermatologist.
Martorano LM, Winkelmann RR, Cebulla CM, Abdel-Rahman MH, Campbell SM. Martorano LM, et al. Int J Dermatol. 2014 Jun;53(6):657-63. doi: 10.1111/ijd.12386. Epub 2014 Apr 2. Int J Dermatol. 2014. PMID: 24697775 Review.
Both UM and CM have been shown to harbor germline mutation of BAP1. However, somatic mutations in either GNAQ or GNA11 are unique to UM tumors and could be used as potential markers to differentiate UM from metastatic CM and act as direct therapeutic targets. ...This revie …
Both UM and CM have been shown to harbor germline mutation of BAP1. However, somatic mutations in either GNAQ or GNA11 are unique to …
What's new in mesothelioma.
Ascoli V, Murer B, Nottegar A, Luchini C, Carella R, Calabrese F, Lunardi F, Cozzi I, Righi L. Ascoli V, et al. Pathologica. 2018 Mar;110(1):12-28. Pathologica. 2018. PMID: 30259910 Review.
Reliable predictive biomarkers are still lacking in MPM and a personalized therapeutic concept is eagerly needed. Mesothelioma occurs mostly as sporadic cancer and the main risk factor is asbestos exposure, but it also occurs among blood relatives suggesting possible incre …
Reliable predictive biomarkers are still lacking in MPM and a personalized therapeutic concept is eagerly needed. Mesothelioma occurs mostly …
Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates.
Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW. Singh S, et al. Discov Med. 2022 Nov-Dec;34(173):205-220. Discov Med. 2022. PMID: 36602871 Free article. Review.
A subset of renal tumors (5-8%) are associated with syndromes such as von Hippel-Lindau (VHL) syndrome, Birt-Hogg-Dube syndrome (BHD), tuberous sclerosis complex (TSC), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis and renal cell c
A subset of renal tumors (5-8%) are associated with syndromes such as von Hippel-Lindau (VHL) syndrome, Birt-Hogg-Dube synd
60 results