Surveillance of Second-Degree Relatives from Melanoma Families with a CDKN2A Germline Mutation

Lifetime melanoma risk of mutation carriers from families with a germline mutation in the CDKN2A gene is estimated to be 67%. The necessity to include family members in a melanoma surveillance program is widely endorsed, but there is no consensus on which family members should be invited. In a retro...

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Bibliographic Details
Published in:Cancer epidemiology, biomarkers & prevention biomarkers & prevention, 2013-10, Vol.22 (10), p.1771-1777
Main Authors: VAN DER RHEE, Jasper I, BOONK, Stephanie E, KUKUTSCH, Nicole A, BERGMAN, Wilma, PUTTER, Hein, CANNEGIETER, Suzanne C, FLINTERMAN, Linda E, HES, Frederik J, DE SNOO, Femke A, MOOI, Wolter J, GRUIS, Nelleke A, VASEN, Hans F. A
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biological and medical sciences
Child
Dermatology
Family Health
Female
Genes, p16
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Incidence
Male
Medical sciences
Melanoma - epidemiology
Melanoma - genetics
Melanoma, Cutaneous Malignant
Middle Aged
Multiple tumors. Solid tumors. Tumors in childhood (general aspects)
Pancreatic Neoplasms - epidemiology
Pancreatic Neoplasms - genetics
Retrospective Studies
Skin Neoplasms - epidemiology
Skin Neoplasms - genetics
Tumors
Tumors of the skin and soft tissue. Premalignant lesions
Young Adult
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Summary:Lifetime melanoma risk of mutation carriers from families with a germline mutation in the CDKN2A gene is estimated to be 67%. The necessity to include family members in a melanoma surveillance program is widely endorsed, but there is no consensus on which family members should be invited. In a retrospective follow-up study, we investigated the yield of surveillance of first- and second-degree relatives of melanoma and pancreatic cancer patients from 21 families with the "p16-Leiden" CDKN2A mutation. Melanoma incidence rates were compared with the general population. Three-hundred and fifty-four first-degree relatives and 391 second-degree relatives were included. Forty-five first-degree relatives and 11 second-degree relatives were diagnosed with melanoma. Most (72%) of second-degree relatives diagnosed with melanoma had become a first-degree relative before diagnosis, due to the occurrence of a melanoma in a parent or sibling. Overall, melanoma incidence rate was 2.1 per 1,000 person years [95% confidence interval (CI), 1.2-3.8] in family members still being second-degree relatives at diagnosis, compared with 9.9 per 1,000 person years (95% CI, 7.4-13.3) in first-degree relatives. The standardized morbidity ratio for melanoma of second-degree relatives compared with the general population was 12.9 (95% CI, 7.2-23.4). Second-degree relatives from families with the p16-Leiden mutation in CDKN2A have a considerably increased melanoma risk compared with the general population. This study provides justification for the surveillance of second-degree relatives from families with a CDKN2A germline mutation.
ISSN:1055-9965
1538-7755
DOI:10.1158/1055-9965.EPI-13-0130