Heterozygous ATM mutations do not contribute to early onset of breast cancer (original) (raw)
Shiloh, Y. Ataxia-telangiectasia: closer to unraveling the mystery. Eur. J. Hum. Genet3, 116–138 (1995). ArticleCAS Google Scholar
Morrell, D. Cromartie, E. & Swift, M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J. Natl. Cancer Inst.77, 89–92 (1986). CASPubMed Google Scholar
Savitsky, K. et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science268, 1749–1753 (1995). ArticleCAS Google Scholar
Swift, M. Reitnauer, P. Morrell, D. & Chase, C. Breast and other cancers in families with ataxia-telangiectasia. New Engl. J. Med.316, 1289–1294 (1987). ArticleCAS Google Scholar
Swift, M. Morrell, D. Massey, R. & Chase, C. Incidence of cancer in 161 families affected by ataxia-telangiectasia. New Engl. J. Med.325, 1831–1836 (1991). ArticleCAS Google Scholar
Easton, D. Cancer risks in A-T heterozygotes. Int. J. Radiat Biol.66, S177–182 (1994). ArticleCAS Google Scholar
Gilad, S. et al. Predominance of null mutations in ataxia-telangiectasia. Hum. Mol. Genet.5, 433–439 (1996). ArticleCAS Google Scholar
Byrd, P. et al. Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia. Hum. Mol. Genet.5, 145–149 (1996). ArticleCAS Google Scholar
Telatar, M. et al. Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am. J. Hum. Genet.59, 40–44 (1996). CASPubMedPubMed Central Google Scholar
Wright, J. et al. A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. Am. J. Hum. Genet.59, 839–846 (1996). CASPubMedPubMed Central Google Scholar
Baumer, A. Bernthaler, U. Wolz, W. Hoehn, H. & Schindler, D. New mutations in the ataxia telangiectasia gene. Hum. Genet.98, 246–249 (1996). ArticleCAS Google Scholar
Wooster, R. et al. Absence of linkage to the ataxia-telangiectasia locus in familial breast cancer. Hum. Genet.92, 91–94 (1993). ArticleCAS Google Scholar
Vorechovsky, I. et al. The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation. Cancer Res.56, 2726–2732 (1996). CASPubMed Google Scholar
Vorechovsky, I. et al. ATM mutations in cancer families. Cancer Res.56, 4130–4133 (1996). CASPubMed Google Scholar
FitzGerald, M. et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset of breast cancer. New Engl. J. Med.334, 143–149 (1996). ArticleCAS Google Scholar
Pippard, E.C. Hall, A.J. Barker, D.J.P. & Bridges, B.A. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res.48, 2929–2932 (1988). CASPubMed Google Scholar
Borresen, A.L. Anderson, T.I. Treti, S. Heiberg, A. & Muller, P. Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. Genes Chrom. Cancer2, 339–340 (1990). ArticleCAS Google Scholar
Athma, P. Rappaport, R. & Swift, M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet. Cytogenet.92, 130–134 (1996). ArticleCAS Google Scholar
Cunliffe, P.N. Mann, J.R. Cameron, A.H. Roberts, K.D. & Ward, H.W.C. Radiosensitivity in ataxia-telangiectasia. Br. J. Radiol.48, 374–376 (1975). Article Google Scholar
Taylor, A.M.R. et al. Ataxia-telangiectasia: a human mutation with abnormal radiation sensitivity. Nature258, 427–429 (1975). ArticleCAS Google Scholar
Houldsworth, J. & Lavin, M. Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells. Nucleic Acid Res.8, 3709–3720 (1980). ArticleCAS Google Scholar
Cole, J. et al. Comparative human cellular radiosensitivity. II The survival following gamma-irradiation of unstimulated (G°) T lymphocytes, T lymphocyte lines, lymphoblastoid cell lines and fibroblasts from normal donors, from ataxia-telangiectasia patients, and from ataxia-telangiectasia heterozygotes. Int. J. Radiat Biol.54, 929–943 (1988). ArticleCAS Google Scholar
Beamish, H. & Lavin, M. Radiosensitivity in ataxia-telangiectasia. Anomalies in radiation-induced cell cycle delay. Int. J. Radiat. Biol.6, 175–184 (1994). Article Google Scholar
Thacker, J. Cellular radiosensitivity in ataxia-telangiectasia. Int. J. Radiat. Biol.66, 587–596 (1994). Article Google Scholar
West, C. Elyan, S. Berry, P. Cowan, R. & Scott, D. A comparison of the radiosensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia (A-T) and A-T heterozygotes. Int. J. Radiat. Biol.68, 197–203 (1995). ArticleCAS Google Scholar
Jorgensen, T.J. & Shiloh, Y. The ATM gene and the radiobiology of ataxia-telangiectasia. Int. J. Radiat. Biol.69, 57–537 (1996). Article Google Scholar
Kastan, M. et al. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell71, 587–597 (1992). ArticleCAS Google Scholar
Khanna, K. & Lavin, M. Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. Oncogene8, 3307–3312 (1993). CASPubMed Google Scholar
Xu, Y. & Baltimore, D. Dual roles of ATM in the cellular response to radiation and in cell growth control. Genes Dev.10, 2401–2410 (1996). ArticleCAS Google Scholar
Savitsky, K. et al. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum. Mol. Genet.4, 2025–2032 (1995). ArticleCAS Google Scholar
Greenwell, P. et al. TEL1, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene. Cell82, 823–829 (1995). ArticleCAS Google Scholar
Morrow, D. Tagle, D. Shiloh, Y. Collins, F. & Hieter, P. TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell82, 831–840 (1995). ArticleCAS Google Scholar
Paulovich, A. & Hartwell, L. A checkpoint regulates the rate of progression through S phase in S. cerevisiae in response to DNA damage. Cell82, 841–847 (1995). ArticleCAS Google Scholar
Hartley, K. et al. DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell82, 849–856 (1995). ArticleCAS Google Scholar
Hari, K. et al. The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene. Cell82, 815–821 (1995). ArticleCAS Google Scholar
Zakian, V. ATM-related genes; what do they tell us about functions of the human gene? Cell82, 685–687 (1995). ArticleCAS Google Scholar
Barlow, C. et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell86, 159–171 (1996). ArticleCAS Google Scholar
Xu, Y. et al. Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev.10, 2411–2422 (1996). ArticleCAS Google Scholar
Ramsay, J. Birrell, G. & Lavin, M. Breast cancer and radiotherapy in ataxia-telangiectasia heterozygote. Lancet347, 1627 (1996). ArticleCAS Google Scholar
Stine, G.J. Population genetics, in The new human genetics, (ed. Kevin Kane) 393–396 (Wm. C. Brown, Dubuque, Iowa, 1989). Google Scholar