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Vol 48(2014) N 2 p. 207-213; DOI 10.1134/S0026893314020149 Full Text

T.V. Nasedkina1*, O.E. Gromyko1, M.A. Emelyanova1, E.O. Ignatova2, T.P. Kazubskaya2, S.M. Portnoi2, A.S. Zasedatelev1, L.N. Lyubchenko1

Genotyping of BRCA1, BRCA2, and CHEK2 Germline Mutations in Russian Breast Cancer Patients Using Diagnostic Biochips

1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991, Russia
2Blokhin Cancer Research Center, Russian Academy of Medical Sciences, Moscow, 115478, Russia

*nased@eimb.ru
Received - 2012-11-16; Accepted - 2013-08-27

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.

breast cancer, germline mutations, BRCA1/2, CHEK2, diagnostics, biochips



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