Open AccessContribution of Germline Mutations inBRCA2,P16INK4A,P14ARFandP15to Uveal Melanoma
Author(s) -
N Hearle,
Bertil Damato,
Jane Humphreys,
Julie A. Wixey,
Helen Green,
Joanne 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.