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Melanoma/Skin Cancer Health Center

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Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Familial Melanoma


Testing in children

Among 61 people tested for CDKN2A mutations (52.5% tested positive) from two large melanoma kindreds, most (75.4%) had children or grandchildren younger than 18 years and expressed interest in testing of minors (73.8%).[6] Among CDKN2A mutation carriers, most (86.7%) wanted their children or grandchildren to be tested, and among noncarriers, half (50%) wanted testing for their own children or grandchildren. The most cited reason for testing children was to aid in risk awareness and to improve protection and screening behavior.

Individuals Who Have Undergone Genetic Testing for Melanoma Susceptibility

Currently, clinical testing for CDKN2A is not recommended outside the research context because most individuals from multiple-case families will not be identified as having a mutation in this gene, and because recommendations for those testing positive do not differ for multiple-case family members who test negative, or do not pursue testing.[7,8] Despite these cautions, CDKN2A testing is commercially available, and thus demand for the test will likely increase.[9] Arguments for the availability of genetic testing include that the results of testing could provide psychological security and contribute to enhanced screening and prevention efforts for those testing positive for CDKN2A.[10] (Refer to the Melanoma Risk Assessment section of this summary for more information about clinical genetic testing for melanoma susceptibility.)

A few small studies have examined distress and behavioral factors associated with CDKN2A testing for melanoma. In a Swedish clinic for individuals at high risk of melanoma resulting from dysplastic nevus syndrome, 11 unaffected, untested individuals drawn from families in which a CDKN2A mutation has been identified were examined. Most (9 of 11) reported no worry about increased melanoma risk. In assessments after disclosure of results, there were no increasing trends towards depression, anxiety, or increased melanoma-risk perception by test results, and no systematic change in sun-related habits by test results.[11]

A prospective study examined interest in and 3-month behavioral and psychosocial outcomes associated with disclosure of melanoma high-risk mutation research results in 19 individuals (three CDKN2A carriers).[12] All of the mutation carriers, but only four of the noncarriers, had a family history of melanoma. Carrier status did not affect risk perception, distress, or sun-protection behaviors.

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