Genotyping of BRCA1, BRCA2, and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips |
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Authors: | T V Nasedkina O E Gromyko M A Emelyanova E O Ignatova T P Kazubskaya S M Portnoi A S Zasedatelev L N Lyubchenko |
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Institution: | 1. Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991, Russia 2. Blokhin Cancer Research Center, Russian Academy of Medical Sciences, Moscow, 115478, Russia
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Abstract: | The identification of BRCA1/2 and CHEK2 germline mutations is central to the molecular diagnostics of susceptibility to breast or/and ovarian cancer. A microarray-based rapid genotyping technique has been developed for identifying BRCA1 (185delAG, 300T>G, 4153delA, 5382insC, and 4158 A>G, 5382insC), BRCA2 (695insT and 6174delT), and CHEK2 (1100delC) mutations. It was applied for 412 randomly collected breast-cancer specimens from central Russia. In 25 (6.0%) patients, breast cancer was associated with other tumors of, e.g., ovarian, cervical, or colorectal cancer. BRCA1/2 and CHEK2 mutations were detected in 33 breast-cancer patients (8.0%). The most frequent mutations were BRCA1 5382insC, which was found in 16 patients (3.9%), and CHEK2 1100delC, which was detected in seven patients (1.7%). The suggested diagnostic microarray proved to be an efficient means of identifying BRCA1/2 and CHEK2 founder mutations most frequent in central Russia and can be proposed as a high-throughput diagnostic tool for clinical genetic testing. |
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