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dc.contributor.author | Potrony Mateu, Míriam |
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dc.contributor.author | Puig Butillé, Joan Anton |
dc.contributor.author | Aguilera, Paula |
dc.contributor.author | Badenas Orquin, Celia |
dc.contributor.author | Carrera Álvarez, Cristina |
dc.contributor.author | Malvehy, J. (Josep) |
dc.contributor.author | Puig i Sardà, Susana |
dc.date | 2019-03-01T16:47:10Z |
dc.date | 2019-03-01T16:47:10Z |
dc.date | 2014-11 |
dc.date | 2019-03-01T16:47:11Z |
dc.identifier | 0190-9622 |
dc.identifier | 647382 |
dc.identifier | 25064638 |
dc.identifier.uri | http://hdl.handle.net/2445/129429 |
dc.description | 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. |
dc.format | 14 p. |
dc.format | application/pdf |
dc.language | eng |
dc.publisher | Elsevier |
dc.relation | Versió postprint del document publicat a: https://doi.org/10.1016/j.jaad.2014.06.036 |
dc.relation | Journal of the American Academy of Dermatology, 2014, vol. 71, num. 5, p. 888-895 |
dc.relation | https://doi.org/10.1016/j.jaad.2014.06.036 |
dc.rights | (c) Elsevier, 2014 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Càncer de mama |
dc.subject | Càncer de pàncrees |
dc.subject | Melanoma |
dc.subject | Càncer de pulmó |
dc.subject | Genètica mèdica |
dc.subject | Breast cancer |
dc.subject | Pancreas cancer |
dc.subject | Melanoma |
dc.subject | Lung cancer |
dc.subject | Medical genetics |
dc.title | 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 |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/acceptedVersion |