Novel complex genomic rearrangement of the BRCA1 gene

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 637, Issue 1-2, 2008, Pages 205-208

  Zikan, Michal ^a   Pohlreich, Petr ^a   Stribrna, Jana ^a   Kleibl, Zdenek ^a   Cibula, David ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

BRCA1; BRCA2; Czech Republic; Genomic rearrangements; Hereditary breast ovarian cancer

Indexed keywords

ARTICLE; BREAST CANCER; CZECH REPUBLIC; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; PROMOTER REGION; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; CZECH REPUBLIC; FEMALE; GENE REARRANGEMENT; GENES, BRCA1; GENES, BRCA2; GERM-LINE MUTATION; HUMANS; OVARIAN NEOPLASMS;

EID: 37249075045     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2007.08.002     Document Type: Article

References (13)

1. Jackson D.A., Bartlett J., and Cook P.R. Sequences attaching loops of nuclear and mitochondrial DNA to underlying structures in human cells: the role of transcription units. Nucleic Acids Res. 24 (1996) 1212-1219
2. Welcsh P.L., and King M.-C. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Mol. Genet. 10 (2001) 705-713
3. Petrij-Bosch A., Peelen T., van Vliet M., et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat. Genet. 17 (1997) 341-345
4. Unger M.A., Nathanson K.L., Calzone K., et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electroforesis or sequencing. Am. J. Hum. Genet. 67 (2003) 841-850
5. Pohlreich P., Stribrna J., Kleibl Z., et al. Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. Med. Princ. Pract. 12 (2003) 23-29
6. Pohlreich P., Zikan M., Stribrna J., et al. High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res. 7 (2005) R728-R736
7. Zikan M., Pohlreich P., and Stribrna J. Mutational analysis of the BRCA1 gene in 30 Czech ovarian cancer patients. J. Genet. 84 (2005) 63-67
8. Smith T.M., Lee M.K., Szabo C.I., et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 6 (1996) 1029-1049
9. Miki Y., Swensen J., Shattuck-Eidens D., et al. A strong candidate for the breast and ovarian cancer susceptibility gene, BRCA1. Science 266 (1994) 66-71
10. Starita L.M., and Parvin J.D. The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair. Curr. Opin. Cell. Biol. 15 3 (2003) 345-350
11. Rohlfs E.M., Chung C.H., Yang Q., et al. In-frame deletions of BRCA1 may define critical functional domains. Hum. Genet. 107 (2000) 385-390
12. Perkowska M., Brozek I., Wysocka B., et al. BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from Northeastern Poland. Hum. Mutat. 21 (2003) 553-554
13. Puget N., Torchard D., Serova-Sinilnikova O., et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res. 57 (1997) 828-831