{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T01:51:07Z","timestamp":1783648267711,"version":"3.55.0"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T00:00:00Z","timestamp":1394064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>The risk of developing papillary thyroid carcinoma (PTC), the most frequent form of thyroid malignancy, is elevated up to 8.6\u2010fold in first\u2010degree relatives of PTC patients. The familial risk could be explained by high\u2010penetrance mutations in yet unidentified genes, or polygenic action of low\u2010penetrance alleles. Since the DNA\u2010damaging exposure to ionizing radiation is a known risk factor for thyroid cancer, polymorphisms in DNA repair genes are likely to affect this risk. In a search for low\u2010penetrance susceptibility alleles we employed Sequenom technology to genotype deleterious polymorphisms in <jats:italic>ATM, CHEK2<\/jats:italic>, and <jats:italic>BRCA1<\/jats:italic> in 1,781 PTC patients and 2,081 healthy controls. As a result of the study, we identified <jats:italic>CHEK2<\/jats:italic> rs17879961 (OR\u2009=\u20092.2, <jats:italic>P<\/jats:italic>\u2009=\u20092.37e\u201010) and <jats:italic>BRCA1<\/jats:italic> rs16941 (odds ratio [OR]\u2009=\u20091.16, <jats:italic>P<\/jats:italic>\u2009=\u20090.005) as risk alleles for PTC. The <jats:italic>ATM<\/jats:italic> rs1801516 variant modifies the risk associated with the <jats:italic>BRCA1<\/jats:italic> variant by 0.78 (<jats:italic>P<\/jats:italic>\u2009=\u20090.02). Both the <jats:italic>ATM<\/jats:italic> and <jats:italic>BRCA1<\/jats:italic> variants modify the impact of male gender on clinical variables: T status (<jats:italic>P<\/jats:italic>\u2009=\u20090.007), N status (<jats:italic>P<\/jats:italic>\u2009=\u20090.05), and stage (<jats:italic>P<\/jats:italic>\u2009=\u20090.035). Our findings implicate an important role of variants in the <jats:italic>ATM\u2010 CHEK2\u2010 BRCA1<\/jats:italic> axis in modification of the genetic predisposition to PTC and its clinical manifestations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22162","type":"journal-article","created":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T06:02:44Z","timestamp":1394085764000},"page":"516-523","source":"Crossref","is-referenced-by-count":58,"title":["Variants in the <i>ATM\u2010CHEK2\u2010BRCA1<\/i> axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma"],"prefix":"10.1002","volume":"53","author":[{"given":"Anna","family":"W\u00f3jcicka","sequence":"first","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"},{"name":"Centre of New Technologies CENT, University of Warsaw  Warsaw 02\u2010089 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Czetwerty\u0144ska","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"},{"name":"Department of Nuclear Medicine and Endocrine Oncology Maria Sk\u0142odowska\u2010Curie Memorial Cancer Center and Institute of Oncology  Warsaw 02\u2010781 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u0142","family":"\u015awierniak","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"},{"name":"Department of Nuclear Medicine and Endocrine Oncology Maria Sk\u0142odowska\u2010Curie Memorial Cancer Center and Institute of Oncology  Gliwice 44\u2010101 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"D\u0142ugosi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine and Endocrine Oncology Maria Sk\u0142odowska\u2010Curie Memorial Cancer Center and Institute of Oncology  Warsaw 02\u2010781 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Maci\u0105g","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Czajka","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga","family":"Dymecka","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kubiak","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of General Transplant, and Liver Surgery, Medical University of Warsaw  Warsaw 02\u2010091 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Kot","sequence":"additional","affiliation":[{"name":"Centre of New Technologies CENT, University of Warsaw  Warsaw 02\u2010089 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw  Warsaw 02\u2010091 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