{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:12:46Z","timestamp":1790766766018,"version":"4.1.0"},"reference-count":62,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T00:00:00Z","timestamp":1284422400000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary breast cancers (BCs) are incompletely explained by <jats:italic>BRCA<\/jats:italic> genes abnormalities, as \u223c70% of them are not associated with known genetic alterations. Array\u2010based comparative genomic hybridization (aCGH) of tumors provides an opportunity for identifying new BC susceptibility genes. By analyzing our database of high\u2010resolution aCGH profiles of 330 BCs, we identified a case with homozygous deletion of the entire <jats:italic>BARD1<\/jats:italic> gene. The <jats:italic>BARD1<\/jats:italic>\u2010deleted case displayed a familial history of BC and other clinico\u2010pathological features of BRCAness, and a 17% probability of <jats:italic>BRCA1\/2<\/jats:italic> mutation. Analysis of constitutional DNA showed a <jats:italic>BARD1<\/jats:italic> germline heterozygous deletion without <jats:italic>BRCA1\/2<\/jats:italic> mutation. Gene expression analysis using DNA microarrays classified the tumor as basal\u2010like, with very low <jats:italic>BARD1<\/jats:italic> and <jats:italic>ID4<\/jats:italic> expression, but high expression of <jats:italic>BRCA1, RAD51<\/jats:italic>, <jats:italic>PARP1<\/jats:italic>, <jats:italic>CHEK1<\/jats:italic>, and <jats:italic>FANCA<\/jats:italic>. The tumor displayed a <jats:italic>BRCA1<\/jats:italic>\u2010mutated expression profile. This is the first report of a non\u2010<jats:italic>BRCA1\/2<\/jats:italic>\u2010mutated BC with somatic homozygous and germ\u2010line heterozygous deletion of the entire <jats:italic>BARD1<\/jats:italic> gene. This observation suggests that <jats:italic>BARD1<\/jats:italic> might be a BC susceptibility gene that follows the Knudson rule. Identification of <jats:italic>BARD1<\/jats:italic> deletion could have clinical applications including screening for hereditary forms. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20822","type":"journal-article","created":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T18:53:37Z","timestamp":1284490417000},"page":"1143-1151","source":"Crossref","is-referenced-by-count":24,"title":["<i>BARD1<\/i> homozygous deletion, a possible alternative to <i>BRCA1<\/i> mutation in basal breast 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