{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:58:43Z","timestamp":1791356323008,"version":"4.3.1"},"reference-count":24,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2000,2,1]],"date-time":"2000-02-01T00:00:00Z","timestamp":949363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4917,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,2]]},"DOI":"10.1086\/302746","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:47:41Z","timestamp":1027694861000},"page":"494-500","source":"Crossref","is-referenced-by-count":189,"title":["ATM-Heterozygous Germline Mutations Contribute to Breast Cancer\u2013Susceptibility"],"prefix":"10.1016","volume":"66","author":[{"given":"Annegien","family":"Broeks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos H.M.","family":"Urbanus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno N.","family":"Floore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen C.","family":"Dahler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan G.M.","family":"Klijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiel J. Th.","family":"Rutgers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Devilee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola S.","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora E.","family":"van Leeuwen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura J.","family":"van't Veer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302746_bib1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/S0165-4608(96)00328-7","article-title":"Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer","volume":"92","author":"Athma","year":"1996","journal-title":"Cancer Genet Cytogenet"},{"key":"10.1086\/302746_bib2","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/(SICI)1098-1004(1998)12:5<330::AID-HUMU6>3.0.CO;2-H","article-title":"ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population","volume":"12","author":"Broeks","year":"1998","journal-title":"Hum Mut"},{"key":"10.1086\/302746_bib3","first-page":"1376","article-title":"The role of ataxia-telangiectasia heterozygotes in familial breast cancer","volume":"58","author":"Chen","year":"1998","journal-title":"Cancer Res"},{"key":"10.1086\/302746_bib4","doi-asserted-by":"crossref","first-page":"S177","DOI":"10.1080\/09553009414552011","article-title":"Cancer risks in A-T heterozygotes","volume":"66","author":"Easton","year":"1994","journal-title":"Int J Radiat Biol Suppl"},{"key":"10.1086\/302746_bib5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/ng0397-307","article-title":"Heterozygous ATM mutations do not contribute to early onset of breast cancer","volume":"15","author":"FitzGerald","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/302746_bib6","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00005792-199103000-00003","article-title":"Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis","volume":"70","author":"Gatti","year":"1991","journal-title":"Medicine"},{"key":"10.1086\/302746_bib7","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1086\/301755","article-title":"Genotype-phenotype relationships in ataxia-telangiectasia and variants","volume":"62","author":"Gilad","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302746_bib8","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1038\/sj.bjc.6690209","article-title":"Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia","volume":"79","author":"Inskip","year":"1999","journal-title":"Br J Cancer"},{"key":"10.1086\/302746_bib9","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1038\/sj.bjc.6690460","article-title":"Breast cancer risk in ataxia-telangiectasia (A-T) heterozygotes: haplotype study in French A-T families","volume":"80","author":"Janin","year":"1999","journal-title":"Br J Cancer"},{"key":"10.1086\/302746_bib11","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/(SICI)1098-2264(199907)25:3<212::AID-GCC3>3.0.CO;2-G","article-title":"Loss of heterozygosity at 11q23.1 and survival in breast cancer: results of a large European study","volume":"25","author":"Laake","year":"1999","journal-title":"Genes Chromosom Cancer"},{"key":"10.1086\/302746_bib10","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/(SICI)1098-2264(199703)18:3<175::AID-GCC4>3.0.CO;2-Z","article-title":"Loss of heterozygosity at 11q23.1 in breast carcinomas: indication for involvement of a gene distal and close to ATM","volume":"18","author":"Laake","year":"1997","journal-title":"Genes Chromosom Cancer"},{"key":"10.1086\/302746_bib12","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S0952-7915(96)80030-6","article-title":"Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction","volume":"8","author":"Lavin","year":"1996","journal-title":"Curr Opin Immunol"},{"key":"10.1086\/302746_bib13","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1146\/annurev.immunol.15.1.177","article-title":"The genetic defect in ataxia-telangiectasia","volume":"15","author":"Lavin","year":"1997","journal-title":"Annu Rev Immunol"},{"key":"10.1086\/302746_bib14","first-page":"3725","article-title":"Enhanced radiosensitivity of cultured fibroblasts from ataxia-telangiectasia heterozygotes manifested by defective colony- forming ability and reduced DNA repair replication after hypoxic gamma irradiation","volume":"39","author":"Paterson","year":"1979","journal-title":"Cancer Res"},{"key":"10.1086\/302746_bib15","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1101\/gr.7.6.592","article-title":"Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene","volume":"7","author":"Platzer","year":"1997","journal-title":"Genome Res"},{"key":"10.1086\/302746_bib16","series-title":"Molecular cloning: a laboratory manuel","author":"Sambrook","year":"1989"},{"key":"10.1086\/302746_bib17","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1093\/hmg\/8.1.69","article-title":"Characterization of ATM gene mutations in 66 ataxia-telangiectasia families","volume":"8","author":"Sandoval","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302746_bib18","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1126\/science.7792600","article-title":"A single ataxia-telangiectasia gene with a product similar to PI-3 kinase","volume":"268","author":"Savitsky","year":"1995","journal-title":"Science"},{"key":"10.1086\/302746_bib19","series-title":"Hereditary neuropathies and spinocerebellar atrophies","first-page":"347","article-title":"Ataxia-telangiectasia","author":"Segdwick","year":"1991"},{"key":"10.1086\/302746_bib20","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1159\/000472285","article-title":"Ataxia-telangiectasia: closer to unravelling the mystery","volume":"3","author":"Shiloh","year":"1995","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/302746_bib22","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1056\/NEJM199112263252602","article-title":"Incidence of cancer in 161 families affected by ataxia-telangiectasia","volume":"325","author":"Swift","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1086\/302746_bib21","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1056\/NEJM198705213162101","article-title":"Breast and other cancers in families with ataxia-telangiectasia","volume":"316","author":"Swift","year":"1987","journal-title":"N Engl J Med"},{"key":"10.1086\/302746_bib23","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1086\/302418","article-title":"Splicing defects in the Ataxia-telangiectasia gene, ATM: underlying mutations and consequences","volume":"64","author":"Teraoka","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302746_bib24","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1080\/09553009514551101","article-title":"A comparison of the radiosensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia (A-T) and A-T heterozygotes","volume":"68","author":"West","year":"1995","journal-title":"Int J Radiat Biol"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707634235?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707634235?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T13:21:21Z","timestamp":1554988881000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707634235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,2]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2000,2]]}},"alternative-id":["S0002929707634235"],"URL":"https:\/\/doi.org\/10.1086\/302746","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,2]]}}}