Contribution of Germline Mutations inBRCA2,P16INK4A,P14ARFandP15to Uveal Melanoma | Zendy

Nicholas Hearle | Zendy; Bertil Damato | Zendy; Jane Humphreys | Zendy; Julie A. Wixey | Zendy; Helen Green | Zendy; J G Stone | Zendy; Douglas F. Easton | Zendy; Richard S. Houlston | Zendy

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Contribution of Germline Mutations inBRCA2,P16^INK4A,P14^ARFandP15to Uveal Melanoma

Author(s) -

Nicholas Hearle,

Bertil Damato,

Jane Humphreys,

Julie A. Wixey,

Helen Green,

J G Stone,

Douglas F. Easton,

Richard S. Houlston

Publication year - 2003

Publication title -

investigative ophthalmology and visual science

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.02-0026

Subject(s) - melanoma , germline mutation , germline , cancer research , uvea , cdkn2a , missense mutation , biology , cancer , mutation , genetics , gene

Reports suggest that a subset of uveal melanoma is familial. The association of uveal melanoma with breast and ovarian cancer and the increased risk in BRCA2-linked families implicates germline BRCA2 mutations as the cause of a subset of uveal melanomas. Similarly, the association between cutaneous and uveal melanomas in some families, coupled with the high frequency of somatic deletions of the INK4A-ARF locus in uveal melanomas, strongly suggests that mutations in P16(INK4A) and P15 account for a proportion of uveal melanomas.

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