AI Article Synopsis
- Previous studies suggest that founder mutations contribute significantly to breast cancer risk in Russia.
- A systematic analysis was conducted on 302 breast cancer cases, focusing on specific hereditary indicators such as early onset and family history.
- The study identified that 15.2% of patients carried mutations linked to breast cancer, with the BRCA1 5382insC mutation being the most common among them, highlighting the potential of targeted genetic testing for diagnosis.
Article Abstract
Previous studies indicate that founder mutations may play a noticeable role in breast cancer (BC) predisposition in Russia. Here we performed a systematic analysis of eight recurrent mutations in 302 BC cases (St.-Petersburg, Russia), which were selected due to the presence of clinical indicators of hereditary disease (bilaterality and/or early onset (< or =40 years) and/or family history). BC-associated alleles were revealed in 46 (15.2%) women. BRCA1 5382insC mutation was detected in 29 (9.6%) patients, CHEK2 1100delC in 9 (3.0%), BRCA1 4153delA in 3 (1.0%), CHEK2 IVS2+1G>A in 2 (0.7%), and BRCA1 185delAG, BRCA2 6174delT and NBS1 657del5 in 1 (0.3%) patient each. No cases with BRCA1 300T>G (C61G) mutation was identified. The obtained data suggest that a significant fraction of hereditary BC cases in Russia can be diagnosed using only a limited number of simple PCR tests.
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| http://dx.doi.org/10.1007/s10689-007-9120-5 | DOI Listing |
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