Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Familial Melanoma
This section reviews the literature examining risk reduction and early-detection behaviors in individuals with heightened risk of melanoma resulting from their family history of the disease and in individuals from hereditary families who have been tested for melanoma high-risk mutation status. The review also addresses risk perception and communication in individuals at heightened risk of melanoma.
Motivation and Interest in Genetic Testing for Risk of Melanoma
Endometrial cancer is a disease that primarily affects postmenopausal women at an average age of 60 years at diagnosis. Risk factors include postmenopausal estrogen therapy, obesity, a high-fat diet, reproductive factors like nulliparity, early menarche and late menopause, polycystic ovarian syndrome, and tamoxifen use. Women with hereditary nonpolyposis colorectal cancer syndrome have a markedly increased risk of endometrial cancer compared with women in the general population.
Few studies have examined motivation and interest in genetic testing for melanoma risk. In general, the findings include the following:
High, but not universal interest in genetic testing.
Articulated benefits of testing among those at heightened risk.
A relative lack of examination of potential limitations of testing or reasons to forgo testing.
In Australia, a qualitative study (N = 40) found that almost all participants with a strong family history of melanoma were interested in genetic testing.[1,2] Genetic testing was favored by the participants for the following reasons:
Gaining information about their children's susceptibility to melanoma.
Having a greater understanding of their own risk.
Having a desire to advance melanoma research.
Having hope that tailored information would increase their motivation for sun-protective behavior.
Perceiving that melanoma is severe.
A Dutch study examined interest in CDKN2A testing (p16-Leiden mutation). Of 510 letters sent to members of 18 p16-Leiden-positive families recruited from the Pigmented Lesions Clinic at the Leiden University Medical Center in the Netherlands, 488 individuals responded by attending clinic for physical examination; an additional 15 family members also accompanied these individuals. Of these, 403 individuals were eligible for genetic counseling. A total of 184 family members followed through with counseling, and 141 of them opted for genetic testing. After the counseling session, 94 individuals returned a completed questionnaire. Older age predicted higher interest in genetic testing; reasons for having genetic testing included learning personal risk (57%) and learning the risk of one's child carrying the mutation (69%). Most participants (88%) felt that genetic testing would make a contribution to diagnostics within their family. However, some individuals (40%) reported that they had not expected to receive risk information concerning pancreatic cancer, and half of the participants (49%) reported increased worry about the possibility of developing pancreatic cancer. Finally, in an Arizona qualitative study of 22 individuals with a strong family history of melanoma, none elected genetic testing even though it was provided as an option for them.
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%). 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.