BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients (original) (raw)
Couch, F.J. et al. Mutations and polymorphisms in the familial early onset breast cancer (BRCA1). gene. Hum. Mutat.8, 8–18 (1996). ArticleCASPubMed Google Scholar
Roa, B.B., Boyd, A.A., Volcik, K. & Richards, C.S., Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genet.14, 185–187 (1996). ArticleCASPubMed Google Scholar
Caligo, M.A. et al. BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations. Oncogene.13, 1483–1488 (1996). CASPubMed Google Scholar
Peelen, T. et al. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am. J. Hum. Genet.60, 1041–1049 (1997). CASPubMedPubMed Central Google Scholar
Neuhausen, S.L. et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am. J. Hum. Genet.58, 271–280 (1996). CASPubMedPubMed Central Google Scholar
Hogervorst, F.B.L. et al. Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genet.10, 208–212 (1995). ArticleCASPubMed Google Scholar
Peelen, T. et al. The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2. Eur. J. Hum. Genet.4, 225–230 (1996). ArticleCASPubMed Google Scholar
Shapiro, M.B. & Senapathy, P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res.15, 7155–7174 (1997). Article Google Scholar
Smith, T.M. et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res.6, 1029–1049 (1996). ArticleCASPubMed Google Scholar
Rudiger, N.S., Gregersen, N. & Kielland-Brandt, M.C. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res.23, 256–260 (1995). ArticleCASPubMedPubMed Central Google Scholar
Puget, N. et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res.57, 828–831 (1997). CASPubMed Google Scholar
Szabo, C.I. & King, M.-C. Inherited breast and ovarian cancer. Hum. Mol. Genet.4, 1811–1817 (1995). ArticleCASPubMed Google Scholar
Futreal, P.A. et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science.266, 120–122 (1994). ArticleCASPubMed Google Scholar
Katagiri, T. et al. Mutations in the BRCA1 gene in Japanese breast cancer patients. Hum. Mutat.7, 334–339 (1996). ArticleCASPubMed Google Scholar
Easton, D., Bishop, D., Ford, D., Crockford, G. & & the Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am. J. Hum. Genet.52, 678–701 (1993). CASPubMedPubMed Central Google Scholar
Narod, S. et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am. J. Hum. Genet.56, 254–264 (1995). CASPubMedPubMed Central Google Scholar
Cast ilia, L . et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet.8, 387–391 (1994). Article Google Scholar
Inoue, R. et al. Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res.55, 3521–3524 (1995). CASPubMed Google Scholar
Durocher, F. et al. Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. J. Med. Genet.33, 814–819 (1996). ArticleCASPubMedPubMed Central Google Scholar
Xu, C.F. et al. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chrom. Cancer.18, 102–110 (1997). ArticleCASPubMed Google Scholar
Hamann, U., Brauch, H., Garvin, A.M., Bastert, G. & Scott, R.J. German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene. Genes Chrom. Cancer.18, 126–132 (1997). ArticleCASPubMed Google Scholar
Shattuck-Eidens, D. et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA273, 535–541 (1995). ArticleCASPubMed Google Scholar
Devilee, P. et al. At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma. Genomics.5, 554–560 (1989). ArticleCASPubMed Google Scholar
Friedman, L. et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet.8, 399–404 (1994). ArticleCASPubMed Google Scholar