2026-04-13T03:56:24Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/1294292025-12-04T19:19:04Zcom_2072_1057col_2072_478858col_2072_478917col_2072_478921
RECERCAT author Potrony Mateu, Míriam author Puig Butillé, Joan Anton author Aguilera, Paula author Badenas Orquin, Celia author Carrera Álvarez, Cristina author Malvehy, J. (Josep) author Puig i Sardà, Susana 2019-03-01T16:47:10Z2019-03-01T16:47:10Z2014-112019-03-01T16:47:11Z 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. (c) Elsevier, 2014 info:eu-repo/semantics/openAccess Càncer de mama Càncer de pàncrees Melanoma Càncer de pulmó Genètica mèdica Breast cancer Pancreas cancer Melanoma Lung cancer Medical genetics 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 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion