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Items: 1 to 20 of 135

1.

Germline BAP1 alterations in familial uveal melanoma.

Rai K, Pilarski R, Boru G, Rehman M, Saqr AH, Massengill JB, Singh A, Marino MJ, Davidorf FH, Cebulla CM, H Abdel-Rahman M.

Genes Chromosomes Cancer. 2017 Feb;56(2):168-174. doi: 10.1002/gcc.22424. Epub 2016 Oct 26.

2.

Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

Cebulla CM, Binkley EM, Pilarski R, Massengill JB, Rai K, Liebner DA, Marino MJ, Singh AD, Abdel-Rahman MH.

Ophthalmic Genet. 2015 Jun;36(2):126-31. doi: 10.3109/13816810.2015.1010734. Epub 2015 Feb 17.

3.

BAP1 germline mutation in two first grade family members with uveal melanoma.

Maerker DA, Zeschnigk M, Nelles J, Lohmann DR, Worm K, Bosserhoff AK, Krupar R, Jägle H.

Br J Ophthalmol. 2014 Feb;98(2):224-7. doi: 10.1136/bjophthalmol-2013-303814. Epub 2013 Nov 1.

PMID:
24187051
4.

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH.

J Med Genet. 2011 Dec;48(12):856-9. doi: 10.1136/jmedgenet-2011-100156. Epub 2011 Sep 22.

5.

Hereditary uveal melanoma: a report of a germline mutation in BAP1.

Höiom V, Edsgärd D, Helgadottir H, Eriksson H, All-Ericsson C, Tuominen R, Ivanova I, Lundeberg J, Emanuelsson O, Hansson J.

Genes Chromosomes Cancer. 2013 Apr;52(4):378-84. doi: 10.1002/gcc.22035. Epub 2013 Jan 23.

PMID:
23341325
6.

Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma.

Staby KM, Gravdal K, Mørk SJ, Heegaard S, Vintermyr OK, Krohn J.

Acta Ophthalmol. 2018 Feb;96(1):31-38. doi: 10.1111/aos.13452. Epub 2017 Apr 26.

PMID:
28444874
7.

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma.

Turunen JA, Markkinen S, Wilska R, Saarinen S, Raivio V, Täll M, Lehesjoki AE, Kivelä TT.

Ophthalmology. 2016 May;123(5):1112-7. doi: 10.1016/j.ophtha.2016.01.008. Epub 2016 Feb 12.

PMID:
26876698
8.

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.

Pilarski R, Cebulla CM, Massengill JB, Rai K, Rich T, Strong L, McGillivray B, Asrat MJ, Davidorf FH, Abdel-Rahman MH.

Genes Chromosomes Cancer. 2014 Feb;53(2):177-82. doi: 10.1002/gcc.22129. Epub 2013 Nov 15.

9.

Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.

Gupta MP, Lane AM, DeAngelis MM, Mayne K, Crabtree M, Gragoudas ES, Kim IK.

JAMA Ophthalmol. 2015 Aug;133(8):881-7. doi: 10.1001/jamaophthalmol.2015.1119.

PMID:
25974357
10.

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers.

Aoude LG, Wadt K, Bojesen A, Crüger D, Borg A, Trent JM, Brown KM, Gerdes AM, Jönsson G, Hayward NK.

PLoS One. 2013 Aug 19;8(8):e72144. doi: 10.1371/journal.pone.0072144. eCollection 2013.

11.

A population-based analysis of germline BAP1 mutations in melanoma.

O'Shea SJ, Robles-Espinoza CD, McLellan L, Harrigan J, Jacq X, Hewinson J, Iyer V, Merchant W, Elliott F, Harland M, Bishop DT, Newton-Bishop JA, Adams DJ.

Hum Mol Genet. 2017 Feb 15;26(4):717-728. doi: 10.1093/hmg/ddw403.

12.

Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated With BAP1 Mutations.

Yavuzyigitoglu S, Mensink HW, Smit KN, Vaarwater J, Verdijk RM, Beverloo B, Brüggenwirth HT, van Marion R, Dubbink HJ, Paridaens D, Naus NC, de Klein A, Kiliç E; Rotterdam Ocular Melanoma Study Group (ROMS).

Invest Ophthalmol Vis Sci. 2016 Apr 1;57(4):2232-9. doi: 10.1167/iovs.15-18608.

PMID:
27116551
13.

Germline BAP1 mutations misreported as somatic based on tumor-only testing.

Abdel-Rahman MH, Rai K, Pilarski R, Davidorf FH, Cebulla CM.

Fam Cancer. 2016 Apr;15(2):327-30. doi: 10.1007/s10689-016-9865-9.

14.

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi LC, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani I.

Cancer Lett. 2016 Aug 10;378(2):120-30. doi: 10.1016/j.canlet.2016.05.011. Epub 2016 May 12.

15.

Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma.

van de Nes JA, Nelles J, Kreis S, Metz CH, Hager T, Lohmann DR, Zeschnigk M.

Am J Surg Pathol. 2016 Jun;40(6):796-805. doi: 10.1097/PAS.0000000000000645.

PMID:
27015033
16.

Germline BAP1 mutations predispose to malignant mesothelioma.

Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M.

Nat Genet. 2011 Aug 28;43(10):1022-5. doi: 10.1038/ng.912.

17.

Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

Carbone M, Flores EG, Emi M, Johnson TA, Tsunoda T, Behner D, Hoffman H, Hesdorffer M, Nasu M, Napolitano A, Powers A, Minaai M, Baumann F, Bryant-Greenwood P, Lauk O, Kirschner MB, Weder W, Opitz I, Pass HI, Gaudino G, Pastorino S, Yang H.

PLoS Genet. 2015 Dec 18;11(12):e1005633. doi: 10.1371/journal.pgen.1005633. eCollection 2015 Dec.

18.

Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases.

Aoude LG, Vajdic CM, Kricker A, Armstrong B, Hayward NK.

Pigment Cell Melanoma Res. 2013 Mar;26(2):278-9. doi: 10.1111/pcmr.12046. Epub 2012 Dec 11. No abstract available.

PMID:
23171164
19.

Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma.

Koopmans AE, Verdijk RM, Brouwer RW, van den Bosch TP, van den Berg MM, Vaarwater J, Kockx CE, Paridaens D, Naus NC, Nellist M, van IJcken WF, Kiliç E, de Klein A.

Mod Pathol. 2014 Oct;27(10):1321-30. doi: 10.1038/modpathol.2014.43. Epub 2014 Mar 14.

20.

Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.

Ewens KG, Kanetsky PA, Richards-Yutz J, Purrazzella J, Shields CL, Ganguly T, Ganguly A.

Invest Ophthalmol Vis Sci. 2014 Jun 26;55(8):5160-7. doi: 10.1167/iovs.14-14550.

PMID:
24970262

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