{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:49:33Z","timestamp":1761918573876,"version":"build-2065373602"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2004,2,26]],"date-time":"2004-02-26T00:00:00Z","timestamp":1077753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2004,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Mothers of children who have ataxia telangiectasia have been reported to be at increased risk for development of breast carcinoma. To test whether sequence variants in the ataxia telangiectasia, mutated, gene (<jats:italic>ATM<\/jats:italic>) are associated with breast carcinoma, the authors compared the frequency of <jats:italic>ATM<\/jats:italic> cDNA sequence changes in patients with breast carcinoma with the corresponding frequency in control patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>The authors sequenced <jats:italic>ATM<\/jats:italic> cDNA from 91 patients with breast carcinoma and compared the frequencies of sequence changes in these patients with the corresponding frequencies in a control sample of 940 individuals with no history of malignant disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Thirty\u2010five patients with breast carcinoma had one or more single\u2010base changes in <jats:italic>ATM<\/jats:italic>. Three genetic variants were found in at least two patients. These variants resulted in Asp1853Asn, Pro1054Arg, or Ser49Cys amino acid substitutions in the ATM protein. The Ser49Cys variant was more common in patients with breast carcinoma than in the control patients, with respective frequencies of 6.7% (5 of 75 patients) and 1.3% (12 of 940 patients; <jats:italic>P<\/jats:italic> = 0.006; Fisher two\u2010sided exact test). The subgroup of patients with bilateral breast carcinoma had a Ser49Cys frequency of 11.8% (2 of 17 patients), which again was significantly different from what was observed in the control group (<jats:italic>P<\/jats:italic> = 0.024; Fisher two\u2010sided exact test). The allele frequencies of the other two variants were not different between case patients and control patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>Patients with breast carcinoma, particularly those with bilateral disease, were more likely to have a variant in the <jats:italic>ATM<\/jats:italic> gene that resulted in a Ser49Cys substitution in the gene product. Additional studies are needed to evaluate the potential functional consequences of the Ser49Cys substitution and confirm the relevance of this variant in the development of breast carcinoma. Cancer 2004;100:1345\u201351. \u00a9 2004 American Cancer Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.20133","type":"journal-article","created":{"date-parts":[[2004,3,23]],"date-time":"2004-03-23T08:40:57Z","timestamp":1080031257000},"page":"1345-1351","source":"Crossref","is-referenced-by-count":36,"title":["A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls"],"prefix":"10.1002","volume":"100","author":[{"given":"Thomas A.","family":"Buchholz","sequence":"first","affiliation":[]},{"given":"Michael M.","family":"Weil","sequence":"additional","affiliation":[]},{"given":"Cheryl L.","family":"Ashorn","sequence":"additional","affiliation":[]},{"given":"Eric A.","family":"Strom","sequence":"additional","affiliation":[]},{"given":"Alice","family":"Sigurdson","sequence":"additional","affiliation":[]},{"given":"Melissa","family":"Bondy","sequence":"additional","affiliation":[]},{"given":"Ranajit","family":"Chakraborty","sequence":"additional","affiliation":[]},{"given":"James D.","family":"Cox","sequence":"additional","affiliation":[]},{"given":"Marsha D.","family":"McNeese","sequence":"additional","affiliation":[]},{"given":"Michael D.","family":"Story","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2004,2,26]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"2929","article-title":"Cancer in homozygotes and heterozygotes of ataxia\u2010telangiectasia and xeroderma pigmentosum in Britain","volume":"48","author":"Pippard EC","year":"1988","journal-title":"Cancer 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