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http://hdl.handle.net/2445/129429
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 |
Author: | Potrony Mateu, Míriam Puig Butillé, Joan Anton Aguilera, Paula Badenas Orquin, Celia Carrera Álvarez, Cristina Malvehy, J. (Josep) Puig i Sardà, Susana |
Keywords: | Càncer de mama Càncer de pàncrees Melanoma Càncer de pulmó Genètica mèdica Breast cancer Pancreas cancer Melanoma Lung cancer Medical genetics |
Issue Date: | Nov-2014 |
Publisher: | Elsevier |
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. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1016/j.jaad.2014.06.036 |
It is part of: | Journal of the American Academy of Dermatology, 2014, vol. 71, num. 5, p. 888-895 |
URI: | http://hdl.handle.net/2445/129429 |
Related resource: | https://doi.org/10.1016/j.jaad.2014.06.036 |
ISSN: | 0190-9622 |
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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