Search for large genomic alterations of the BRCA1 gene in a Finnish population
| Autor: | Ritva Karhu, Eeva Laurila, Kirsi Syrjäkoski, Kaija Holli, Anne Kallioniemi |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Cancer Research endocrine system diseases Population structure Genes BRCA1 Breast Neoplasms Biology Exon Breast cancer Finnish population Multiplex polymerase chain reaction Genetics medicine Humans skin and connective tissue diseases Molecular Biology Gene Finland Brca1 gene Sequence Deletion Ovarian Neoplasms Gene Amplification Exons medicine.disease Mutation Female Ovarian cancer |
| Zdroj: | Cancer Genetics and Cytogenetics. 163:57-61 |
| ISSN: | 0165-4608 |
| Popis: | Mutations in the BRCA1 and BRCA2 genes are known to predispose to breast cancer. In Finland, however, only 21% of all breast cancer families have mutations in these genes. Recent studies have shown that large genomic alterations of BRCA1 are common in many countries. Because such alterations will be missed in conventional mutation screening strategies, we decided to screen Finnish breast and ovarian cancer families for genomic alterations by using a multiplex polymerase chain reaction method. The most characteristic features of BRCA1 -related breast cancer were used to select patients, namely (1) both breast and ovarian cancer in the family (48 patients), (2) four or more breast cancers in family (22 patients), or (3) young age (≤40 years) of onset (58 patients). A total of 128 patients were included in the study. All exons of BRCA1 were analyzed but no alterations were found. This study excludes the frequent occurrence of large genomic alterations in the BRCA1 gene in Finland. Here, again, Finland differs from other countries with a mixed population structure. Our results are in agreement with the common hypothesis that there are still unknown breast cancer susceptibility gene(s) that are responsible for breast cancer predisposition. |
| Databáze: | OpenAIRE |
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