Family relationships of recent familial uveal melanomas in Finland

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Attention has recently focused on hereditary predisposition in uveal melanoma. We describe relationships between patients with familial uveal melanomas prospectively diagnosed in Finland during the last five years.


Prospective ascertainment of uveal melanoma patients with a positive family history between 2008 and 2012 in a national ocular oncology center managing essentially all uveal melanomas in Finland, a high risk region for developing this rare cancer.


Of 311 new patients with uveal melanoma, 8 (2.6%; 95% confidence interval, 1.1-5.0) eventually gave a positive family history upon specific questioning and encouragement to query among relatives. The index cases were 40-83 years old when the diagnosis was made (mean, 61) and 2 of them came from the same family. The previous cases in these families had been 26-82 years old at the time of diagnosis, which had been made 3-21 years earlier. The earlier patients had the following relationship to the index case: 1 son, 1 father, 1 mother, 1 grandmother, 2 aunts, 1 uncle, and 1 cousin. Of them, 5 had died of uveal melanoma and 2 were alive. On the other hand, none of the index patients have so far developed metastases or died.


Mutations of BAP1 so far have explained some but not all familial cases of uveal melanoma. Identification and further analysis of familial uveal melanomas will help to understand the emerging genetic diversity of uveal melanoma.

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