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

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...

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Autores: Potrony Mateu, Míriam, Puig Butillé, Joan Anton, Aguilera, Paula, Badenas Orquin, Celia, Carrera Álvarez, Cristina, Malvehy, J. (Josep), Puig i Sardà, Susana
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2014
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/129429
Acceso en línea:https://hdl.handle.net/2445/129429
Access Level:acceso abierto
Palabra clave:Càncer de mama
Càncer de pàncrees
Melanoma
Càncer de pulmó
Genètica mèdica
Breast cancer
Pancreas cancer
Lung cancer
Medical genetics
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spelling 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 counselingPotrony Mateu, MíriamPuig Butillé, Joan AntonAguilera, PaulaBadenas Orquin, CeliaCarrera Álvarez, CristinaMalvehy, J. (Josep)Puig i Sardà, SusanaCàncer de mamaCàncer de pàncreesMelanomaCàncer de pulmóGenètica mèdicaBreast cancerPancreas cancerMelanomaLung cancerMedical geneticsBACKGROUND: 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.Elsevier2019201920142019info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion14 p.application/pdfhttps://hdl.handle.net/2445/129429Articles publicats en revistes (Medicina)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésVersió postprint del document publicat a: https://doi.org/10.1016/j.jaad.2014.06.036Journal of the American Academy of Dermatology, 2014, vol. 71, num. 5, p. 888-895https://doi.org/10.1016/j.jaad.2014.06.036(c) Elsevier, 2014info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1294292026-05-29T05:05:01Z
dc.title.none.fl_str_mv 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
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
spellingShingle 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
Potrony Mateu, Míriam
Càncer de mama
Càncer de pàncrees
Melanoma
Càncer de pulmó
Genètica mèdica
Breast cancer
Pancreas cancer
Melanoma
Lung cancer
Medical genetics
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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.creator.none.fl_str_mv Potrony Mateu, Míriam
Puig Butillé, Joan Anton
Aguilera, Paula
Badenas Orquin, Celia
Carrera Álvarez, Cristina
Malvehy, J. (Josep)
Puig i Sardà, Susana
author Potrony Mateu, Míriam
author_facet Potrony Mateu, Míriam
Puig Butillé, Joan Anton
Aguilera, Paula
Badenas Orquin, Celia
Carrera Álvarez, Cristina
Malvehy, J. (Josep)
Puig i Sardà, Susana
author_role author
author2 Puig Butillé, Joan Anton
Aguilera, Paula
Badenas Orquin, Celia
Carrera Álvarez, Cristina
Malvehy, J. (Josep)
Puig i Sardà, Susana
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Càncer de mama
Càncer de pàncrees
Melanoma
Càncer de pulmó
Genètica mèdica
Breast cancer
Pancreas cancer
Melanoma
Lung cancer
Medical genetics
topic Càncer de mama
Càncer de pàncrees
Melanoma
Càncer de pulmó
Genètica mèdica
Breast cancer
Pancreas cancer
Melanoma
Lung cancer
Medical genetics
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.
publishDate 2014
dc.date.none.fl_str_mv 2014
2019
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/129429
url https://hdl.handle.net/2445/129429
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1016/j.jaad.2014.06.036
Journal of the American Academy of Dermatology, 2014, vol. 71, num. 5, p. 888-895
https://doi.org/10.1016/j.jaad.2014.06.036
dc.rights.none.fl_str_mv (c) Elsevier, 2014
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Elsevier, 2014
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 14 p.
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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