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A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.
Farley MN, Schmidt LS, Mester JL, Pena-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PLM, Eng C, Linehan WM, Brugarolas J. Farley MN, et al. Among authors: dahia plm. Mol Cancer Res. 2013 Sep;11(9):1061-1071. doi: 10.1158/1541-7786.MCR-13-0111. Epub 2013 May 24. Mol Cancer Res. 2013. PMID: 23709298 Free PMC article.
Author Correction: Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M, Martelotto L, Pattison A, Bowen B, Balachander S, Flynn A, Rossello FJ, Hogg A, Miller JA, Frysak Z, Grimmond S, Fishbein L, Tischler AS, Gill AJ, Hicks RJ, Dahia PLM, Clifton-Bligh R, Pacak K, Tothill RW. Zethoven M, et al. Among authors: dahia plm. Nat Commun. 2023 Jan 9;14(1):123. doi: 10.1038/s41467-022-35751-y. Nat Commun. 2023. PMID: 36624099 Free PMC article. No abstract available.
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Marsh DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson SV, Järvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C. Marsh DJ, et al. Cancer Res. 1997 Nov 15;57(22):5017-21. Cancer Res. 1997. PMID: 9371495
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.
Marsh DJ, Dahia PL, Coulon V, Zheng Z, Dorion-Bonnet F, Call KM, Little R, Lin AY, Eeles RA, Goldstein AM, Hodgson SV, Richardson AL, Robinson BG, Weber HC, Longy M, Eng C. Marsh DJ, et al. Genes Chromosomes Cancer. 1998 Jan;21(1):61-9. doi: 10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6. Genes Chromosomes Cancer. 1998. PMID: 9443042
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Marsh DJ, et al. Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011
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