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Medline ® Abstract for Reference 27

of 'Inherited susceptibility to melanoma'

27
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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.
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Potrony M, Puig-ButilléJA, Aguilera P, Badenas C, Carrera C, Malvehy J, Puig S
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J Am Acad Dermatol. 2014;71(5):888. Epub 2014 Jul 24.
 
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 ofCDKN2A 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.
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Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
PMID