Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families
| Autor: | Marika Kujala, Kati Pääkkönen, Heli Nevanlinna, Robert Winqvist, Pia Huusko, Jaana Lahti-Domenici, Katrin Rapakko, Minna Allinen |
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| Rok vydání: | 2001 |
| Předmět: |
Cancer Research
medicine.medical_specialty endocrine system diseases Mammary gland Breast Neoplasms Biology medicine.disease_cause Genetics Carcinoma medicine Humans Family Genetic Predisposition to Disease Genetic Testing skin and connective tissue diseases Molecular Biology Gene Finland Sequence Deletion BRCA2 Protein Ovarian Neoplasms BRCA1 Protein Cytogenetics Gene rearrangement medicine.disease Neoplasm Proteins Blotting Southern medicine.anatomical_structure Female Carcinogenesis Ovarian cancer Transcription Factors |
| Zdroj: | Cancer Genetics and Cytogenetics. 129:120-123 |
| ISSN: | 0165-4608 |
| Popis: | In the Finnish population, identified mutations in BRCA1 and BRCA2 account for a less than expected proportion of hereditary breast and ovarian cancer. All previous studies performed in our country have concentrated on finding germ-line mutations in the coding and splice-site regions of these two genes. Therefore, we wanted to use a different methodological approach and search for large genomic rearrangements, to exclude the possibility of biased BRCA1 and BRCA2 mutation spectra due to known limitations of the previously used PCR-based detection methods. Our results support earlier notions that other genes than BRCA1 and BRCA2 will explain a majority of the still unexplained cases of hereditary susceptibility to breast and ovarian cancer. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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