{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T22:52:18Z","timestamp":1761519138986},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NT14054"],"award-info":[{"award-number":["NT14054"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova","doi-asserted-by":"publisher","award":["PRVOUK\u2010P27\/LF1\/1","UK 260148\/2015","UNCE 204011"],"award-info":[{"award-number":["PRVOUK\u2010P27\/LF1\/1","UK 260148\/2015","UNCE 204011"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Hereditary breast cancer comprises a minor but clinically meaningful breast cancer (<jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content>) subgroup. Mutations in the major <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content>\u2010susceptibility genes are important prognostic and predictive markers; however, their carriers represent only 25% of high\u2010risk <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content> patients. To further characterize variants influencing <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content> risk, we performed <jats:styled-content style=\"fixed-case\">SOLiD<\/jats:styled-content> sequencing of 581 genes in 325 <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content> patients (negatively tested in previous <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">PALB2<\/jats:styled-content><\/jats:italic> analyses). In 105 (32%) patients, we identified and confirmed 127 truncating variants (89 unique; nonsense, frameshift indels, and splice site), 19 patients harbored more than one truncation. Forty\u2010six (36 unique) truncating variants in 25 <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair genes were found in 41 (12%) patients, including 16 variants in the Fanconi anemia (<jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content>) genes. The most frequent variant in <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> genes was c.1096_1099dupATTA in <jats:italic><jats:styled-content style=\"fixed-case\">FANCL<\/jats:styled-content><\/jats:italic> that also show a borderline association with increased <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content> risk in subsequent analysis of enlarged groups of <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content> patients and controls. Another 81 (53 unique) truncating variants were identified in 48 non\u2010<jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair genes in 74 patients (23%) including 16 patients carrying variants in genes coding proteins of estrogen metabolism\/signaling. Our results highlight the importance of mutations in the <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> genes' family, and indicate that estrogen metabolism genes may reveal a novel candidate genetic component for <jats:styled-content style=\"fixed-case\">BC<\/jats:styled-content> susceptibility.<\/jats:p>","DOI":"10.1111\/cge.12748","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T09:28:41Z","timestamp":1454059721000},"page":"324-333","source":"Crossref","is-referenced-by-count":33,"title":["Hereditary truncating mutations of <scp>DNA<\/scp> repair and other genes in <i><scp>BRCA1<\/scp><\/i>\/<i><scp>BRCA2<\/scp><\/i>\/<i><scp>PALB2<\/scp><\/i>\u2010negatively tested breast cancer patients"],"prefix":"10.1111","volume":"90","author":[{"given":"F.","family":"Lhota","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine Charles University in Prague  Prague Czech 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