Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population
| Autor: | Eva Barragán González, Oscar Fuster Lluch, Carmen Guillén Ponce, Inmaculada de Juan Jiménez, Ana Bayón Lara, Pascual Bolufer Gilabert, Eva Esteban Cardeñosa, Blanca Munárriz Gandía, María Dolores Torregrosa Maicas, Ismael Aznar Carretero, Sarai Palanca Suela, Ana Beatriz Sánchez Heras, Ana Santaballa Bertran |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Cancer Research Genetic counseling Breast Neoplasms Biology medicine.disease_cause Germline White People Germline mutation Genetics medicine Humans Genetic Predisposition to Disease Family history Genetics (clinical) Aged Aged 80 and over BRCA2 Protein Ovarian Neoplasms Mutation BRCA1 Protein Carcinoma Ductal Breast Cancer Middle Aged medicine.disease Human genetics Pedigree Carcinoma Lobular Carcinoma Intraductal Noninfiltrating Oncology Spain Female Ovarian cancer |
| Zdroj: | Familial cancer. 11(1) |
| ISSN: | 1573-7292 |
| Popis: | The true prevalence of BRCA1/BRCA2 (BRCAs) germline mutations in sporadic breast or ovarian cancer (SBC/SOC) in Caucasian population is not well established. The aim of the study is to establish the prevalence of BRCAs mutations in SBC to ponder its relevance in the programs of genetic counseling in cancer and to explore the genotype-phenotype relationship of these particular breast cancers. The study was performed in 495 SBC. We sought 46 BRCA1 and 53 BRCA2 pathogenic mutations reported in the Spanish population. We followed a high resolution melting method performed in the LightCycler 480 (Roche Diagnostics) for the screening of these Spanish mutations using 49 primer pairs. Eight different deleterious mutations, one of them novel, were detected in nine patients, five without family history of BC/OC, what yields a true prevalence of 1.05% for BRCAs mutations in SBC. Furthermore, we found 18 unknown variants. Larger tumour size (T > 1) and earlier presentation are the independent parameters associated with the presence of BRCAs pathogenic mutations in SBC (P |
| Databáze: | OpenAIRE |
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