Categorized | MRV Research

Melanoma-prone families with CDKN2A mutations have higher rates of additional cancers

Source:, November 2014

Researchers discovered an increased prevalence of lung, pancreatic and breast cancer in families prone to melanoma who also carry CDKN2A germline mutations.

In a cross-sectional study, researchers analyzed the effect of CDKN2A in 702 Spanish patients at high risk of developing melanoma and associations with clinical and family history features.

Patients with sporadic multiple primary melanoma had a CDKN2A mutation prevalence of 8.5%, and those with familial melanoma had a CDKN2A mutation prevalence of 14.1%.

The researchers found that the number of cases in the family, the number of primary melanomas and the age of onset were each associated with the presence of CDKN2A mutation.

In cases with two melanomas, the researchers observed a 12.6% incidence of positive mutation carriers, whereas in patients who developed at least four melanomas, the incidence was up to 48%.

Additionally, age of onset was lower among patients with melanoma and CDKN2A mutations compared with those who had wild-type cases, according to the researchers.

Finally, using an analysis according to cancer type, the researchers found an increased presence of pancreatic cancer, lung cancer and breast cancer among the relatives of patients who had melanoma and carried CDKN2A mutations compared with patients who had the wild type.

The researchers concluded that these data may be useful to refine genetic counseling in melanoma and encourage improving cancer prevention programs for CDKN2A mutation carriers.

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