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Start Over Author "Díez O" Journal british journal of cancer
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2. An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.

Author

Osorio A, Pollán M, Pita G, Schmutzler RK, 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 PL, Loud JT, McGuffog L, Antoniou AC, and Benitez J

Subjects
Adult, Breast Neoplasms pathology, Female, Genetic Predisposition to Disease, Genotype, Haplotypes, Heterozygote, Humans, Ovarian Neoplasms genetics, Ovarian Neoplasms pathology, Risk Factors, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms genetics, Germ-Line Mutation genetics, Polymorphism, Genetic genetics, Tumor Suppressor Protein p53 genetics
Abstract

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.

Published
2008
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