Germline brca2 sequence variants in patients with ocular melanoma

On the basis, chiefly, of anecdotal reports of cases of ocular melanoma (OM ) occurring in families with inherited susceptibility to breast cancer due to brca2 germline mutations, we examined the frequency of brca2 alterations in a series of 62 ocular melanoma cases. These cases were preferentially s elected on the basis of reported family history of breast or ovarian cancer , or OM, although the series also included a randomly selected set of cases without family history of cancer. A total of 7 germline alterations were f ound, of which 3 were likely to be associated with disease. While all 3 del eterious mutations were found in patients who also had a personal history o f breast cancer, only 1 of the 3 families had a family history of breast/ov arian cancer or OM. Although germline brca2 mutations may account for a sma ll proportion of all OM cases, there may be additional loci that contribute to familial aggregation of OM and to the familial association between OM a nd breast cancer. Int. J. Cancer 82:325-328, 1999. (C) 1999 Wiley-Liss, Inc .