Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:ψBRCA1 recombination
Article first published online: 18 MAR 2002
Copyright © 2002 Wiley-Liss, Inc.
Volume 19, Issue 4, pages 435–442, April 2002
How to Cite
Brown, M. A., Lo, L.-J., Catteau, A., Xu, C.-F., Lindeman, G. J., Hodgson, S. and Solomon, E. (2002), Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:ψBRCA1 recombination. Hum. Mutat., 19: 435–442. doi: 10.1002/humu.10055
- Issue published online: 18 MAR 2002
- Article first published online: 18 MAR 2002
- Manuscript Accepted: 18 DEC 2001
- Manuscript Received: 6 AUG 2001
- Medical Research Council (UK)
- Anti-Cancer Council of Victoria (Australia)
- Selby Research Foundation
- National Health and Medical Research Council of Australia. Grant Number: 143037
- 1996. The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21. Genomics 38:215–222. .
- 1995. Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1. Proc Natl Acad Sci USA 92:4362–4366. .
- 1996. The 5′ end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21. Oncogene 12:2507–2513. .
- 1999a. Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. Oncogene 18:1957–1965. .
- 1999b. Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions. Br J Cancer 79:759–763. .
- 1997. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum Mol Genet 6:285–289. .
- 1993. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The breast cancer linkage consortium. Am J Hum Genet 52:678–701. .
- 1999. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet 65:1021–1029. .
- 1998. Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer. Genes Chromosomes Cancer 21:244–249. .
- 2001. Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic. J Clin Oncol 19:2247–2253. .
- 1999. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943–949. .
- 1997. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341–345. .
- 1999. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455–461. .
- 1996. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 6:1029–1049. .
- 1997. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6:1513–1517. .
- 2000. The breast cancer information core: database design, structure, and scope. Hum Mutat 16:123–131. .
- 2000. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 67:841–850. .
- 2001. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet 10:705–713. .
- 1997a. Isolation and characterization of the NBR2 gene which lies head to head with the human BRCA1 gene. Hum Mol Genet 6:1057–1062. .
- 1997b. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chromosomes Cancer 18:102–110. .