High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1

被引：28

作者：

Rouleau, E. ^{[1
]}

Lefol, C. ^{[1
]}

Tozlu, S. ^{[1
]}

Andrieu, C. ^{[1
]}

Guy, C. ^{[1
]}

Copigny, F. ^{[1
]}

Nogues, C. ^{[1
]}

Bieche, I ^{[1
]}

Lidereau, R. ^{[1
]}

机构：

[1] Ctr Rene Huguenin, Lab Oncogenet, F-92210 St Cloud, France

来源：

CLINICAL GENETICS | 2007年 / 72卷 / 03期

关键词：

BRCA1; gene; gene rearrangement; genetic screening/method; oligonucleotide array-CGH;

D O I：

10.1111/j.1399-0004.2007.00849.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have developed a new method for detecting and characterizing large rearrangements in the BRCA1 gene based on high-resolution oligonucleotide array-CGH technology. We designed a specific CGH array for the BRCA1 gene and its flanking regions. We then used this approach to analyze nine DNA samples known to contain large deletions and large duplications. When possible, the deleted or duplicated region was sequenced to identify the break point. All the large rearrangements were detected by the new method, and their size was estimated to be within 1-2 kb. This enabled us to develop a simple polymerase chain reaction screening test for other family members. A refined choice of oligonucleotides should improve the precision of the breakpoint determination. Finally, the high resolution of oligonucleotide array-CGH should help to detect new large rearrangements missed by other current methods.

引用

页码：199 / 207

页数：9

共 32 条

[1] Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families [J].

Barrois, M ;

Bièche, I ;

Mazoyer, S ;

Champème, MH ;

Bressac-de Paillerets, B ;

Lidereau, R .

CLINICAL GENETICS, 2004, 65 (02) :131-136

[2] Rapid detection of noval BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments [J].

Casilli, F ;

Di Rocco, ZC ;

Gad, S ;

Tournier, I ;

Stoppa-Lyonnet, D ;

Frebourg, T ;

Tosi, M .

HUMAN MUTATION, 2002, 20 (03) :218-226

[3] Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene [J].

Couch, FJ ;

Weber, BL ;

Borresen, AL ;

Brody, L ;

Casey, G ;

Devilee, P ;

Fitzgerald, M ;

Friend, S ;

Gayther, S ;

Goldgar, D ;

Murphy, P ;

Szabo, C ;

Weber, B ;

Wiseman, R ;

Anderson, T ;

Durocher, F ;

Ganguly, A ;

King, MC ;

Lenoir, G ;

Narod, S ;

Olopade, O ;

Plummer, S ;

Ponder, B ;

Serova, O ;

Simard, J ;

Stratton, M ;

Warren, B .

HUMAN MUTATION, 1996, 8 (01) :8-18

[4] Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome [J].

Dhami, P ;

Coffey, AJ ;

Abbs, S ;

Vermeesch, JR ;

Dumanski, JP ;

Woodward, KJ ;

Andrews, RM ;

Langford, C ;

Vetrie, D .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (05) :750-762

[5] DNA array-based method for detection of large rearrangements in the BRCA1 gene [J].

Frolov, A ;

Prowse, AH ;

Vanderveer, L ;

Bove, B ;

Wu, H ;

Godwin, AK .

GENES CHROMOSOMES & CANCER, 2002, 35 (03) :232-241

[6] Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families [J].

Gad, S ;

Klinger, M ;

Caux-Moncoutier, V ;

Pages-Berhouet, S ;

Gauthier-Villars, M ;

Coupier, I ;

Bensimon, A ;

Aurias, A ;

Stoppa-Lyonnet, D .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (11) :817-821

[7] Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families [J].

Gad, S ;

Caux-Moncoutier, V ;

Pagès-Berhouet, S ;

Gauthier-Villars, M ;

Coupier, I ;

Pujol, P ;

Frénay, M ;

Gilbert, B ;

Maugard, C ;

Bignon, YJ ;

Chevrier, A ;

Rossi, A ;

Fricker, JP ;

Nguyen, TD ;

Demange, L ;

Aurias, A ;

Bensimon, A ;

Stoppa-Lyonnet, D .

ONCOGENE, 2002, 21 (44) :6841-6847

[8] Color bar coding the BRCAI gene on combed DNA:: A useful strategy for detecting large gene rearrangements [J].

Gad, S ;

Aurias, A ;

Puget, N ;

Mairal, A ;

Schurra, C ;

Montagna, M ;

Pages, S ;

Caux, V ;

Mazoyer, S ;

Bensimon, A ;

Stoppa-Lyonnet, D .

GENES CHROMOSOMES & CANCER, 2001, 31 (01) :75-84

[9]

Gad Sophie, 2003, Hum Mutat, V21, P654, DOI 10.1002/humu.9148

[10]

*GROUP BEDS, 2000, AM J HUM GENET, V67, P207

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