• 1
    Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998;62: 67689.
  • 2
    Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennet LM, Havgen-Strano A, Swensen J, Miki Y. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994;266: 1202.
  • 3
    Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat 1996;8: 816.
  • 4
    Berchuck A, Heron KA, Carney ME, Lancaster JM, Fraser EG, Vinson VL, Deffenbaugh AM, Miron A, Marks JR, Futreal PA, Frank TS. Frequency of germline and somatic BRCA1 mutations in sporadic ovarian cancer. Clin Cancer Res 1998;4: 24337.
  • 5
    Lindblom A, Skoog L, Rotstein S, Werelius B, Larsson C, Nordenskjold M. Loss of heterozygosity in familial breast carcinoma. Cancer Res 1993;53: 435661.
  • 6
    Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C, Frank TS. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet 1995;9: 43943.
  • 7
    Arason A, Jonasdottir A, Barkadottir RB, Bergthorsson JT, Teare MD, Easton DF, Egilsson V. A population study of mutations and LOH at breast cancer gene loci in tumors from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. J Med Genet 1998;35: 4469.
  • 8
    Yoshikawa K, Honda K, Inamoto T. Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. Clin Cancer Res 1999;5: 124961.
  • 9
    Rice JC, Massey-Brown KS, Futscher BW. Aberrant methylation of the BRCA1 CpG island promoter is associated with decreased mRNA in sporadic breast cancer cells. Oncogene 1998;17: 180712.
  • 10
    Bianco T, Chenevix-Trench G, Walsh DC, Cooper JE, Dobrovic A. Tumour-specific distribution of BRCA1 promoter region methylation supports a pathogenic role in breast and ovarian cancer. Carcinogenesis 2000;21: 14751.
  • 11
    Esteller M, Silva JM, Domínguez G, Bonilla F, Matias-Guiu X, Lerma E, Bussaglia E, Prat J, Harkes IC, Repasky EA, Gabrielson E, Schutte M. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst 2000;92: 5649.
  • 12
    Rio PG, Pernin D, Bay JO. Loss of heterozigosity of BRCA1, BRCA2 and ATM genes in sporadic invasive ductal carcinoma. Int J Oncol 1998;13: 84953.
  • 13
    Katsama A, Sourvinos G, Zachos G, Spandinos DA. Allelic loss at the BRCA1, BRCA2 and TP53 loci in human sporadic breast carcinoma. Cancer Lett 2000;150: 16570.
  • 14
    Osorio A, Barroso A, Martínez B, Cebrián A, San Román JM, Lobo F, Robledo M, Benitez J. Molecular analysis of the BRCA1 and BRCA2 genes in 32 Spanish families with breast and/or ovarian cancer. Br J Cancer 2000; 82: 126670.
  • 15
    de la Hoya M, Pérez-Segura P, Van Orsouw N, Díaz-Rubio E, Caldés T. Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene. Int J Cancer 2001; 91: 13740.
  • 16
    Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc JF, Belanger C, Dion F. Common origin of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994;8: 3928.
  • 17
    van Orsouw NJ, Dhanda RK, Elhaji Y, Narod SA, Li FP, Eng C, Vijg J. A highly accurate, low cost test for BRCA1 mutations. J Med Genet 1999;36: 74753.
  • 18
    Bloom HJG, Richardson WW. Histological grading and prognosis in breast cancer. Br J Cancer 1937;11: 35977.
  • 19
    Sarkar FH, Li YW, Crissman J. A method for PCR sequencing of the p53 gene from a single 10-μ frozen or paraffin-embedded tissue section. Biotechniques 1993;15: 368.
  • 20
    de La Hoya M, Diaz-Rubio E, Caldes T. Denaturing gradient gel electrophoresis–based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from nonpathogenic polymorphisms. Clin Chem 1999;45: 202830.
  • 21
    Abel KJ, Xu J, Yin GY, Lyons RH, Meisler MH, Weber BL. Mouse Brca1: localization sequence analysis and identification of evolutionarily conserved domains. Hum Mol Genet 1995;4: 226573.
  • 22
    Esteller M, Fraga M, Guo M, García-Foncillas J, Hedenfalk I, Godwin AK, Trojan J, Bignon YJ, Ramus S, Benítez J, Caldés T, Akiyama Y, et al. DNA methylation patterns in hereditary human cancer mimic sporadic tumorigenesis. Hum Mol Genet 2001; 10: 30017.
  • 23
    Merajver SD, Frank TS, Xu J, Pham TM, Calzone KA, Bennet-Baker P, Chamberlain J, Boyd J, Garber JE, Collins FS. Germline mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer. Clin Cancer Res 1995;1: 53944.
  • 24
    Beckmann MW, Picard F, An HX, van Roeyen CR, Dominik SI, Mosny DS, Schnurch HG, Bender HG, Niederacher D. Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer. Br J Cancer 1996;73: 12206.
  • 25
    Silva JM, Gonzalez R, Provencio M, Dominguez G, Garcia JM, Gallego I, Palacios J, Espana P, Bonilla F. Loss of heterozygosity in BRCA1 and BRCA2 markers and high-grade malignancy in breast cancer. Breast Cancer Res Treat 1999;53: 917.