Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/129429
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DC Field | Value | Language |
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dc.contributor.author | Potrony Mateu, Míriam | - |
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.accessioned | 2019-03-01T16:47:10Z | - |
dc.date.available | 2019-03-01T16:47:10Z | - |
dc.date.issued | 2014-11 | - |
dc.identifier.issn | 0190-9622 | - |
dc.identifier.uri | http://hdl.handle.net/2445/129429 | - |
dc.description.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. | - |
dc.format.extent | 14 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Elsevier | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1016/j.jaad.2014.06.036 | - |
dc.relation.ispartof | Journal of the American Academy of Dermatology, 2014, vol. 71, num. 5, p. 888-895 | - |
dc.relation.uri | https://doi.org/10.1016/j.jaad.2014.06.036 | - |
dc.rights | (c) Elsevier, 2014 | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Càncer de mama | - |
dc.subject.classification | Càncer de pàncrees | - |
dc.subject.classification | Melanoma | - |
dc.subject.classification | Càncer de pulmó | - |
dc.subject.classification | Genètica mèdica | - |
dc.subject.other | Breast cancer | - |
dc.subject.other | Pancreas cancer | - |
dc.subject.other | Melanoma | - |
dc.subject.other | Lung cancer | - |
dc.subject.other | 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 | - |
dc.identifier.idgrec | 647382 | - |
dc.date.updated | 2019-03-01T16:47:11Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 25064638 | - |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Medicina) |
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File | Description | Size | Format | |
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647382.pdf | 269.05 kB | Adobe PDF | View/Open |
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