Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: Implications for genetic counseling - 16/10/14
Abstract |
Background |
Cyclin-dependent kinase inhibitor 2A (CDKN2A) is the major high-risk susceptibility gene for melanoma.
Objective |
We sought to evaluate the effect of CDKN2A mutations in Spanish patients with a high risk of developing melanoma and the association with clinical and family history features.
Methods |
A cross-sectional study design was used to analyze the CDKN2A impact in 702 Spanish patients with a high risk of developing melanoma.
Results |
The CDKN2A mutation prevalence was 8.5% in patients with sporadic multiple primary melanoma and 14.1% in familial melanoma. Number of cases in the family, number of primary melanomas, and age of onset were associated with the presence of CDKN2A mutation. Having a CDKN2A mutation in the family increased the prevalence of other cancers (prevalence ratio [PR] 2.99, P = .012) and prevalence of pancreatic (PR 2.97, P = .006), lung (PR 3.04, P < .001), and breast (PR 2.19, P = .018) cancers but not nephrourologic or colon cancer.
Limitations |
Smoking status was not assessed in the individuals with lung cancer.
Conclusions |
Melanoma-prone families with mutations in CDKN2A have an increased prevalence of a broad spectrum of cancers including lung, pancreatic, and breast cancer. This information should be included in genetic counseling and cancer prevention programs for CDKN2A mutation carriers.
Le texte complet de cet article est disponible en PDF.Key words : breast cancer, CDKN2A, genetic counseling, lung cancer, melanoma, pancreatic cancer, prevention, risk, smoking
Abbreviations used : CDK4, CDKN2A, FMP, MPM, PR, SMP
Plan
| The research at the Melanoma Unit in Barcelona is partially funded by Spanish Fondo de Investigaciones Sanitarias grants 09/01393 and 12/00840; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) of the Instituto de Salud Carlos III, Spain; Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR) grant 2009 SGR 1337 of the Catalan Government, Spain; European Commission under the Sixth Framework Program, contract no. LSHC-CT-2006-018702 (GenoMEL); and National Cancer Institute of the US National Institutes of Health (CA83115). Ms Potrony had a personal grant from the CIBERER of the Instituto de Salud Carlos III, Spain. The work was carried out at the Esther Koplowitz Center, Barcelona. |
|
| Ms Potrony and Dr Puig-Butillé contributed equally to this work. |
|
| Conflicts of interest: None declared. |
Vol 71 - N° 5
P. 888-895 - novembre 2014 Retour au numéro
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