An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.

Osorio, A; Pollán, M; Pita, G; Schmutzler, R K; Versmold, B; Engel, C; Meindl, A; Arnold, N; Preisler-Adams, S; Niederacher, D; Hofmann, W; Gadzicki, D; Jakubowska, A; Hamann, U; Lubinski, J; Toloczko-Grabarek, A; Cybulski, C; Debniak, T; Llort, G; Yannoukakos, D; Díez, O; Peissel, B; Peterlongo, P; Radice, P; Heikkinen, T; Nevanlinna, H; Mai, P L; Loud, J T; McGuffog, L; Antoniou, A C; Benitez, J

Osorio, A; Pollán, M; Pita, G; Schmutzler, R K; Versmold, B; Engel, C; Meindl, A; Arnold, N; Preisler-Adams, S; Niederacher, D; Hofmann, W; Gadzicki, D; Jakubowska, A; Hamann, U; Lubinski, J; Toloczko-Grabarek, A; Cybulski, C; Debniak, T; Llort, G; Yannoukakos, D; Díez, O; Peissel, B; Peterlongo, P; Radice, P; Heikkinen, T; Nevanlinna, H; Mai, P L; Loud, J T; McGuffog, L; Antoniou, A C; Benitez, J.

Afiliación

Osorio A; Human Cancer Genetics Programme, Human Genetics Group, Spanish National Cancer Centre, Madrid, Spain. aosorio@cnio.es

Br J Cancer ; 99(6): 974-7, 2008 Sep 16.

Article en En | MEDLINE | ID: mdl-18781154

RESUMEN

The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2.

Asunto(s)

Proteína BRCA1/genética; Proteína BRCA2/genética; Neoplasias de la Mama/genética; Mutación de Línea Germinal/genética; Polimorfismo Genético/genética; Proteína p53 Supresora de Tumor/genética; Adulto; Neoplasias de la Mama/patología; Femenino; Predisposición Genética a la Enfermedad; Genotipo; Haplotipos; Heterocigoto; Humanos; Neoplasias Ováricas/genética; Neoplasias Ováricas/patología; Factores de Riesgo

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo Genético / Neoplasias de la Mama / Proteína p53 Supresora de Tumor / Mutación de Línea Germinal / Proteína BRCA1 / Proteína BRCA2 Tipo de estudio: Clinical_trials / Etiology_studies / Evaluation_studies Límite: Adult / Female / Humans Idioma: En Revista: Br J Cancer Año: 2008 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido

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