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

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

卷:71

Article

Potrony, Miriam^1,3  Puig-Butille, Joan Anton^1,2  Aguilera, Paula^1,3  Badenas, Celia^1,2  Carrera, Cristina^1,3  Malvehy, Josep^1,3  Puig, Susana^1,3 

[1] Hosp Clin Barcelona, Ctr Invest Biomed Red Enfermedades Raras ISCIII, Inst Invest Biomed August Pi I Sunyer, E-08036 Barcelona, Spain

[2] Hosp Clin Barcelona, Inst Invest Biomed August Pi I Sunyer, Biochem & Mol Genet Serv, E-08036 Barcelona, Spain

[3] Hosp Clin Barcelona, Inst Invest Biomed August Pi I Sunyer, Dept Dermatol, Melanoma Unit, E-08036 Barcelona, Spain

关键词: breast cancer;    CDKN2A;    genetic counseling;    lung cancer;    melanoma;    pancreatic cancer;    prevention;    risk;    smoking;   

DOI  :  10.1016/j.jaad.2014.06.036

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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