Large genomic BRCA2 rearrangements and male breast cancer
| Autor: | Kirsi Syrjäkoski, Ritva Karhu, Anne Kallioniemi, Eeva Laurila |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Cancer Research endocrine system diseases DNA Mutational Analysis Genes BRCA2 Biology medicine.disease_cause Breast Neoplasms Male Germline mutation medicine Humans Mass Screening Multiplex ligation-dependent probe amplification skin and connective tissue diseases neoplasms CHEK2 Finland Mass screening Aged Aged 80 and over Gene Rearrangement Genetics Mutation Chromosomes Human Pair 13 Point mutation Gene rearrangement Middle Aged medicine.disease female genital diseases and pregnancy complications Oncology Male breast cancer Cancer research DNA Probes Nucleic Acid Amplification Techniques |
| Zdroj: | Cancer Detection and Prevention. 30:530-534 |
| ISSN: | 0361-090X |
| Popis: | Background: Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point mutations in contrast to BRCA1 in which large genomic rearrangements are quite common. In recent literature, however, genomic alterations of BRCA2 have been linked especially to male breast cancer families. We wanted to screen large genomic deletions and duplications of BRCA2 among Finnish male breast cancer patients. Methods: We used multiplex ligation-dependent probe amplification (MLPA) to detect large genomic rearrangements in the BRCA2 gene among 36 unselected Finnish male breast cancer patients previously tested and found negative for Finnish BRCA1 and BRCA2 founder mutations. Results: No genomic mutations of BRCA2 nor CHEK2*1100delC point mutations, also included in the assay, were found in this study. Conclusion: Large genomic BRCA2 rearrangements were not found among our 36 Finnish male breast cancer patients. Screening of large BRCA2 rearrangements is not likely to be advantageous in Finland. |
| Databáze: | OpenAIRE |
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