BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples

被引：6

作者：

Anisimenko, Maksim S. ^{[1
]}

Mitrofanov, Dmitriy V. ^{[1
]}

Chasovnikova, Olga B. ^{[1
]}

Voevoda, Mikhail I. ^{[2
]}

Kovalenko, Sergey P. ^{[1
]}

机构：

[1] Russian Acad Med Sci, Inst Mol Biol & Biophys, Siberian Branch, Novosibirsk 630117, Russia

[2] Russian Acad Med Sci, Inst Therapy, Siberian Branch, Novosibirsk 630089, Russia

来源：

BREAST | 2013年 / 22卷 / 04期

关键词：

BRCA1; Cancer predisposition; Breast cancer; Pooled DNA; OVARIAN-CANCER PATIENTS; BREAST-CANCER; FOUNDER MUTATIONS; PREVALENCE; 5382INSC; BYELARUS;

D O I：

10.1016/j.breast.2012.12.007

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The frequencies of four mutations in the BRCA1 gene (185delAG, T300G, 4153delA, and 5382insC) were estimated in the Russian population. The mutations were analyzed in 7920 DNA samples obtained from randomly selected Novosibirsk citizens and 570 samples from breast cancer patients at Siberian hospitals. The mutations were detected by allele-specific real-time PCR. The mutation analysis was performed with pooled DNA samples to reduce the cost of the study. The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each. (C) 2012 Elsevier Ltd. All rights reserved.

引用

页码：532 / 536

页数：5

共 16 条

[1] Frequency of BRCA1 mutation 5382insC in German breast cancer patients [J].

Backe, J ;

Hofferbert, S ;

Skawran, B ;

Dörk, T ;

Stuhrmann, M ;

Karstens, JH ;

Untch, M ;

Meindl, A ;

Burgemeister, R ;

Chang-Claude, J ;

Weber, BHF .

GYNECOLOGIC ONCOLOGY, 1999, 72 (03) :402-406

[2] High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus [J].

Bogdanova, N. V. ;

Antonenkova, N. N. ;

Rogov, Y. I. ;

Karstens, J. H. ;

Hillemanns, P. ;

Doerk, T. .

CLINICAL GENETICS, 2010, 78 (04) :364-372

[3] Determining SNP allele frequencies in DNA pools [J].

Breen, G ;

Harold, D ;

Ralston, S ;

Shaw, D ;

Clair, DS .

BIOTECHNIQUES, 2000, 28 (03) :464-+

[4] SNP allele frequency estimation in DNA pools and variance components analysis [J].

Downes, K ;

Barratt, BJ ;

Akan, P ;

Bumpstead, SJ ;

Taylor, SD ;

Clayton, DG ;

Deloukas, P .

BIOTECHNIQUES, 2004, 36 (05) :840-+

[5] The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania [J].

Elsakov, P. ;

Kurtinaitis, J. ;

Petraitis, S. ;

Ostapenko, V. ;

Razumas, M. ;

Razumas, T. ;

Meskauskas, R. ;

Petrulis, K. ;

Luksite, A. ;

Lubinski, J. ;

Gorski, B. ;

Narod, S. A. ;

Gronwald, J. .

CLINICAL GENETICS, 2010, 78 (04) :373-376

[6] Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR [J].

Giroux, S. ;

Dube-Linteau, A. ;

Cardinal, G. ;

Labelle, Y. ;

Laflamme, N. ;

Giguere, Y. ;

Rousseau, F. .

CLINICAL GENETICS, 2007, 71 (06) :569-575

[7] Breast cancer predisposing alleles in Poland [J].

Górski, B ;

Cybulski, C ;

Huzarski, T ;

Byrski, T ;

Gronwald, J ;

Jakubowska, A ;

Stawicka, M ;

Gozdecka-Grodecka, S ;

Szwiec, M ;

Urbañski, K ;

Mitus, J ;

Marczyk, E ;

Dziuba, J ;

Wandzel, P ;

Surdyka, D ;

Haus, O ;

Janiszewska, H ;

Debniak, T ;

Toloczko-Grabarek, A ;

Medrek, K ;

Masojc, B ;

Mierzejewski, M ;

Kowalska, E ;

Narod, SA ;

Lubinski, J .

BREAST CANCER RESEARCH AND TREATMENT, 2005, 92 (01) :19-24

[8]

Krylova NYu, 2006, HERED CANCER CLIN PR, V4, P193

[9] Antiprimer quenching-based real-time PCR and its application to the analysis of clinical cancer samples [J].

Li, J ;

Wang, FF ;

Mamon, H ;

Kulke, MH ;

Harris, L ;

Maher, E ;

Wang, LL ;

Makrigiorgos, GM .

CLINICAL CHEMISTRY, 2006, 52 (04) :624-633

[10] High frequency of BRCA1 5382insC mutation in Russian breast cancer patients [J].

Sokolenko, Anna P. ;

Mitiushkina, Natalia V. ;

Buslov, Konstantin G. ;

Bit-Sava, Elena M. ;

Iyevleva, Aglaya G. ;

Chekmariova, Elena V. ;

Kuligina, Ekatherina Sh. ;

Ulibina, Yulia M. ;

Rozanov, Maxim E. ;

Suspitsin, Evgeny N. ;

Matsko, Dmitry E. ;

Chagunava, Oleg L. ;

Trofimov, Dmitry Yu. ;

Devilee, Peter ;

Cornelisse, Cees ;

Togo, Alexandr V. ;

Semiglazov, Vladimir F. ;

Imyanitov, Evgeny N. .

EUROPEAN JOURNAL OF CANCER, 2006, 42 (10) :1380-1384

← 1 2 →