| http://purl.uniprot.org/citations/16419081 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16419081 | http://www.w3.org/2000/01/rdf-schema#comment | "Germline mutations in the BRCA1 and BRCA2 genes confer a high lifetime risk of developing breast and other cancers; however, remarkable differences exist regarding disease manifestation in mutation carriers. It has been suggested that other genetic and/or environmental factors modify not only the appearance but also the age of onset and type of tumor in BRCA1/2-associated cases. The aim of the present study was to investigate the role of two p53 polymorphisms (c.97-147ins16bp and c.215c>g, p.Arg72Pro) as potential modifiers. For this purpose we investigated the possible association between the two polymorphisms and disease status in 447 BRCA1/2 mutation carriers belonging to 170 Spanish breast and/or ovarian cancer families. Genotype and haplotype analyses revealed that the presence of a specific haplotype carrying the allele without the 16-bp insertion and the variant allele for the Arg72Pro (No Ins-72Pro haplotype) was associated with an earlier age of onset in BRCA2 mutation carriers. We found an increased risk of developing a first primary tumor (breast or ovarian) before 35 years of age for individuals who carried at least one No Ins-72Pro haplotype (OR: 2.69; 95% CI: 1.15-6.29; P=0.022). We confirmed these data by a functional study in which we compared different p53 genotypes in relation to their apoptotic response after cell treatment with a cytotoxic drug (AraC). Our results revealed a decrease in p53 apoptotic rate associated with the No Ins-72Pro haplotype."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20283"xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Alonso C."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Gonzalez-Sarmiento R."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Osorio A."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Benitez J."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Urioste M."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Pollan M."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Caldes T."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Velasco E."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Diez O."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Cuadros M."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Martinez-Delgado B."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "De La Hoya M."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Melchor L."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/author | "Torrenteras C."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/name | "Hum Mutat"xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/pages | "242-248"xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/title | "A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers."xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://purl.uniprot.org/core/volume | "27"xsd:string |
| http://purl.uniprot.org/citations/16419081 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16419081 |
| http://purl.uniprot.org/citations/16419081 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16419081 |
| http://purl.uniprot.org/uniprot/#_A0A0F6TMZ9-mappedCitation-16419081 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16419081 |