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K. Rhodes, J.H. Smith, L. Padnick–Silver, A.C. Newlin, W.S. Rubinstein; Genetic Study of Familial Uveal Melanoma . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4636.
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To evaluate a kindred with familial uveal and cutaneous melanoma. To identify potential genetic and environmental factors that may predispose individuals to develop uveal melanoma.
Family history, ocular and cutaneous exams, an environmental risk factor questionnaire, and genetic testing were used to assess the proband and nine siblings. Main outcomes included cutaneous and ocular nevi, benign and malignant neoplasms of skin and other sites, Brief Risk Assessment Tool (BRAT) risk classification for cutaneous melanoma, and DNA sequencing of p16INK4a and p14ARF genes.
The proband and mother had uveal melanoma. Seven out of ten siblings had cutaneous and/or ocular nevi. Two siblings had cutaneous melanomas, and two other siblings had basal cell carcinomas. No germline mutations were detected in the melanoma–associated tumor suppressor genes p16INK4a and p14ARF. Six siblings were also "high–risk" for cutaneous malignancies based on BRAT classification.
Our results strengthen the association between uveal melanoma, atypical nevi and cutaneous melanoma. This relationship supports the recommendation that individuals with a personal or family history of uveal melanoma, particularly in combination wiht atypical nevi should be regularly screened for uveal and cutaneous melanoma.
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