Breast cancer genetics: Family history, heterogeneity, molecular genetic diagnosis, and genetic counseling

Parker, 1996, Cancer statistics, 1996, CA Cancer J Clin, 65, 5, 10.3322/canjclin.46.1.5 Hall, 1990, Linkage of early-onset breast cancer to chromosome 17q21, Science, 250, 1684, 10.1126/science.2270482 Lynch, 1979, Family history in an oncology clinic: implications for cancer genetics, JAMA, 242, 1268, 10.1001/jama.242.12.1268 David, 1991, The potential use of tumor registry data in the recognition and prevention of hereditary and familial cancer, New York State J Med, 91, 150 Arvanitis, 1990, Mortality in patients with familial adenomatous polyposis, Dis Colon Rectum, 33, 639, 10.1007/BF02150736 Lynch, 1993, DNA screening for breast/ovarian cancer susceptibility based on linked markers. A family study, Arch Intern Med, 153, 1979, 10.1001/archinte.153.17.1979 Lynch, 1994, Hereditary breast cancer and family cancer syndromes, World J Surg, 18, 21, 10.1007/BF00348188 Lynch, 1994, Phenotypic variation in hereditary breast cancer: cancer control implications, Arch Surg, 129, 806, 10.1001/archsurg.1994.01420320028005 Lynch, 1972, Tumor variation in families with breast cancer, JAMA, 222, 1631, 10.1001/jama.222.13.1631 Narod, 1991, Familial breast-ovarian cancer locus on chromosome 17q12-q23, Lancet, 388, 82 Feunteun, 1993, A breast-ovarian cancer susceptibility gene maps to chromosome 17q21, Am J Hum Genet, 52, 736 Easton, 1993, Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families, Am J Hum Genet, 52, 678 Ford, 1995, The genetics of breast and ovarian cancer, Br J Cancer, 72, 805, 10.1038/bjc.1995.417 Ford, 1994, Risks of cancer in BRCA1-mutation carriers, Lancet, 343, 692, 10.1016/S0140-6736(94)91578-4 Serova, 1996, A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families, Am J Hum Genet, 58, 42 Shattuck-Eidens, 1995, A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening, JAMA, 273, 535, 10.1001/jama.273.7.535 Castilla, 1994, Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer, Nat Genet, 8, 387, 10.1038/ng1294-387 Friedman, 1994, Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families, Nat Genet, 8, 399, 10.1038/ng1294-399 Simard, 1994, Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families, Nat Genet, 8, 392, 10.1038/ng1294-392 Struewing, 1995, Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer, Am J Hum Genet, 57, 1 Easton, 1995, Breast and ovarian cancer incidence in BRCA1 mutation carriers, Am J Hum Genet, 56, 265 Gayther, 1995, Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation, Nat Genet, 11, 428, 10.1038/ng1295-428 Friedman, 1995, Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families, Am J Hum Genet, 57, 1284 Jensen, 1996, BRCA1 is secreted and exhibits properties of a granin, Nat Genet, 12, 303, 10.1038/ng0396-303 Lane, 1995, Expression of Brca1 is associated with terminal differentiation of ectodermally and mesodermally derived tissues in mice, Genes Dev, 9, 2712, 10.1101/gad.9.21.2712 Holt, 1996, Growth retardation and tumour inhibition by BRCA1, Nat Genet, 12, 298, 10.1038/ng0396-298 Szabo, 1995, Inherited breast and ovarian cancer, Hum Mol Genet, 4, 1811, 10.1093/hmg/4.suppl_1.1811 Malkin, 1990, Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms, Science, 250, 1233, 10.1126/science.1978757 Gatti, 1988, Localization of an ataxia-telangiectasia gene to chromosome 11q22–23, Nature, 366, 577, 10.1038/336577a0 Savitsky, 1995, A single ataxia telangiectasia gene with a product similar to PI-3 kinase, Science, 268, 1749, 10.1126/science.7792600 Gowen, 1996, Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities, Nat Genet, 12, 91, 10.1038/ng0296-191 Wooster, 1994, Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12–13, Science, 265, 1088, 10.1126/science.8091231 Wooster, 1995, Identification of the breast cancer susceptibility gene BRCA2, Nature, 378, 789, 10.1038/378789a0 Nikolakaki, 1993, Glycogen synthase kinase 3 phosphorylates Jun family members in vitro and negatively regulates their transactivating potential in intact cells, Oncogene, 8, 833 Marcus, 1996, Hereditary breast cancer. Pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage, Cancer, 77, 697, 10.1002/(SICI)1097-0142(19960215)77:4<697::AID-CNCR16>3.0.CO;2-W Lynch, 1981, Prolonged survival as a component of hereditary breast and nonpolyposis colon cancer, Med Hypotheses, 7, 1201, 10.1016/0306-9877(81)90063-3 Albano, 1982, Natural history of hereditary cancer of the breast and colon, Cancer, 50, 360, 10.1002/1097-0142(19820715)50:2<360::AID-CNCR2820500233>3.0.CO;2-4 Lynch, 1978, Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma, Cancer, 41, 2055, 10.1002/1097-0142(197805)41:5<2055::AID-CNCR2820410554>3.0.CO;2-X Li, 1969, Soft-tissue sarcomas, breast cancer, and other neoplasms, a familial syndrome?, Ann Intern Med, 71, 747, 10.7326/0003-4819-71-4-747 Li, 1975, Familial breast cancer, soft-tissue sarcomas, and other neoplasms, Ann Intern Med, 83, 833, 10.7326/0003-4819-83-6-833_2 Li, 1982, Prospective study of a family cancer syndrome, JAMA, 247, 2692, 10.1001/jama.247.19.2692 Swift, 1990, Genetic aspects of ataxia-telangiectasia, Immunodeficiency Rev, 2, 67 Morrell, 1986, Mortality and cancer incidence in 263 patients with ataxia-telangiectasia, J Natl Cancer Inst, 77, 89 Morrell, 1990, Cancers in 44 families with ataxia-telangiectasia, Cancer Genet Cytogenet, 50, 119, 10.1016/0165-4608(90)90245-6 Swift, 1990, Cancer predisposition of ataxia-telangiectasia heterozygotes, Cancer Genet Cytogenet, 46, 21, 10.1016/0165-4608(90)90004-T Swift, 1986, The incidence and gene frequency of ataxia-telangiectasia in the United States, Am J Hum Genet, 39, 573 Williard, 1992, Cowden's disease, Cancer, 69, 2969, 10.1002/1097-0142(19920615)69:12<2969::AID-CNCR2820691217>3.0.CO;2-2 Lloyd, 1963, Cowden's disease: a possible new symptom complex with multiple system involvement, Ann Intern Med, 58, 136, 10.7326/0003-4819-58-1-136 Walton, 1986, A further indication for prophylactic mastectomy, Surgery, 99, 82 German, 1993, Bloom syndrome: a mendelian prototype of somatic mutational disease, Medicine, 72, 393, 10.1097/00005792-199311000-00003 Claus, 1990, Age of onset as an indicator of familial risk of breast cancer, Am J Epidemiol, 131, 961, 10.1093/oxfordjournals.aje.a115616 Peto, 1996, Cancer mortality in relatives of women with breast cancer: the OPCS study, Int J Cancer, 65, 275, 10.1002/(SICI)1097-0215(19960126)65:3<275::AID-IJC1>3.0.CO;2-X Easton, 1996, Cancer mortality in relatives of women with ovarian cancer: the OPCS study, Int J Cancer, 65, 284, 10.1002/(SICI)1097-0215(19960126)65:3<284::AID-IJC2>3.0.CO;2-W Miki, 1994, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1, Science, 266, 66, 10.1126/science.7545954 Thies, 1993, Attitudes of neurologists, psychiatrists, and psychotherapists toward predictive testing for Huntington's disease in Germany, J Med Genet, 30, 1023, 10.1136/jmg.30.12.1023 The World Federation of Neurology Research Group on Huntington's Disease, 1993, Presymptomatic testing for Huntington's disease: a worldwide survey, J Med Genet, 30, 1020, 10.1136/jmg.30.12.1020 Nuffield Council on Bioethics, 1993 Andrews, 1994 Committee of the Health Council of the Netherlands, 1994, Heredity: science and society on the possibilities and limits of genetic testing and gene therapy, Hum Gene Ther, 5, 37 American Society of Human Genetics, 1994, Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition, Am J Hum Genet, 55, 1 Working Party of the Clinical Genetics Society, 1994, The genetic testing of children, J Med Genet, 31, 785 American College of Medical Genetics, 1995, Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents, Am J Hum Genet, 57, 1233 Harper, 1995, Genetic testing, common diseases, and health service provision, Lancet, 346, 1645, 10.1016/S0140-6736(95)92835-9 Ministry of Health and Social Affairs. Biotechnology related to human beings [Abstract]. 1993. Lynch, 1996, Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred, Cancer, 77, 30, 10.1002/(SICI)1097-0142(19960101)77:1<30::AID-CNCR7>3.0.CO;2-R Munn, 1996, Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast, Br J Cancer, 73, 636, 10.1038/bjc.1996.110 Watanabe, 1996, Detection of K-ras point mutations at codon 12 in pure pancreatic juice for the diagnosis of pancreatic cancer by PCR-RFLP analysis, Pancreas, 12, 18, 10.1097/00006676-199601000-00003