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

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Another study examined behavioral factors associated with CDKN2A carrier status among 64 individuals from two large Utah families in which a CDKN2A mutation had been identified. The individuals received extensive recommendations for sun protection and screening. Questionnaires conducted one month after receipt of genetic test results and recommendations showed increased intention for skin examinations (self-examinations and health care professional examinations), regardless of whether individuals were found to be CDKN2A carriers or noncarriers. Rates of over screening (>1 skin self-examination per month) also increased in CDKN2A carriers.[13] In a follow-up study one month later with the same sample, CDKN2A carriers showed marginally increased intentions for sun-protective behaviors; CDKN2A noncarriers showed no increase in overall photoprotection but a shift to using sun-protective clothing rather than sun avoidance.[14] Thirty-seven individuals from the same cohort were assessed for psychosocial and behavioral outcomes 2 years posttesting. Levels of anxiety, depression, melanoma worry, and pancreatic cancer worry were all low and decreased over time, with more perceived benefits of testing noted than drawbacks of testing.[15] Adherence to annual total-body skin examinations significantly increased among unaffected carriers (from 40% at baseline to 70% at 2 years) but decreased among unaffected noncarriers (from 56% at baseline to 13% at 2 years). Affected carriers were adherent at both assessments (91% and 82%, respectively).[16]

In Australia, 121 individuals with a strong family history of melanoma completed questionnaires before genetic counseling and testing.[5] Distress (melanoma-specific distress and general distress) levels were very low in this population. The most important predictors of distress included a personal history of melanoma, having concerns about the impact of melanoma on family, having a high information-seeking disposition (monitoring style), a perceived importance of sun exposure in causing melanoma, and not having children.

In a randomized controlled trial, 73 adults with a family history of melanoma were randomly assigned to receive either genetic counseling with genotyping results (CDKN2A and MC1R) or usual care. Overall, participants in the intervention group reported a significant increase in frequency of skin self-examinations, compared with a slight decrease among those in the control group. In addition, intervention participants reported a smaller decrease in frequency of wearing a shirt for sun protection compared with control participants. No other differences in sun protection habits were noted. These results should be interpreted with caution, as only five individuals (three in the intervention arm) had a deleterious mutation for one or both of the genes. Nonetheless, study results support the notion that genetic testing for melanoma does not lead to false reassurance and reduced sun protection behaviors among those who test negative.[17]

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