Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genetic services in probands and their relatives. We describe whether they attend genetic counseling when invited, whether they want a mutation test after being counseled and whether they adhere to recommendations for surveillance. 66 % (95/144) of first-degree relatives to mutation carriers contacted us within the study period. 98 % (126/128) of all relatives who came for genetic counseling decided on genetic testing for their family's mutation, and 93 % (66/71) of all mutation carriers wanted referral to yearly skin examinations. Female relatives had a significantly higher uptake of genetic services compared to males, similar to the findings in families with a BRCA1 mutation. Uptake of genetic services in general in families with a CDKN2A mutation is high. Females seem to have a higher interest in genetic testing than males, regardless of gene mutated.
Section on Hereditary Cancer, Oslo University Hospital, PB 4950 Nydalen, 0424, Oslo, Norway. trilevin@gmail.com.
Trine
T
Levin
Section on Hereditary Cancer, Oslo University Hospital, PB 4950 Nydalen, 0424, Oslo, Norway.
Lovise
L
Mæhle
D019313:BRCA1 Protein / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18 / Q000235:genetics*; D055088:Early Detection of Cancer; D005260:Female; D019398:Genes, BRCA1; D019942:Genes, p16; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D009664:Norway; D010190:Pancreatic Neoplasms; D010349:Patient Compliance; D012737:Sex Factors; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000096142:Cutaneous Malignant Melanoma
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; C000614131:CDKN2A protein, human; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18
CDKN2A; Genetic counseling; Genetic testing; Hereditary malignant melanoma; Surveillance; Uptake