{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:58:01Z","timestamp":1791356281092,"version":"4.3.1"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,7,10]],"date-time":"2013-07-10T00:00:00Z","timestamp":1373414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2013,12,15]]},"abstract":"<jats:p><jats:italic>BRCA2<\/jats:italic> is the major high\u2010penetrance predisposition gene for luminal (estrogen receptor [ER] positive) breast cancers. However, many <jats:italic>BRCA2<\/jats:italic> mutant carriers lack family history of breast\/ovarian cancers and do not benefit from genetic testing. Specific genomic features associated with <jats:italic>BRCA2<\/jats:italic> inactivation in tumors could help identify patients for whom a genetic test for <jats:italic>BRCA2<\/jats:italic> may be proposed. A series of ER\u2010positive invasive ductal carcinomas (IDCs) including 30 carriers of <jats:italic>BRCA2<\/jats:italic> mutations and 215 control cases was studied by single\u2010nucleotide polymorphism (SNP) arrays. Cases and controls were stratified by grade and HER2 status. Independently, 7 <jats:italic>BRCA2<\/jats:italic> and 51 control cases were used for validation. Absolute copy number and Loss of heterozygosity (LOH) profiles were obtained from SNP arrays by the genome alteration print (GAP) method. <jats:italic>BRCA2<\/jats:italic> tumors were observed to display a discriminatively greater number of chromosomal breaks calculated after filtering out and smoothing &lt;3 Mb variations. This argues for a <jats:italic>BRCA2<\/jats:italic>\u2010associated genomic instability responsible for long\u2010segment aberrations. Co\u2010occurrence of two genomic features\u2014LOH of 13q13 and 14q32\u2014was found to predict <jats:italic>BRCA2<\/jats:italic> status with 90% of sensitivity and 87% of specificity in discovery series of high\u2010grade HER2\u2010negative IDCs and 100% of sensitivity and 88% of specificity in an independent series of 58 IDCs. Estimated positive predictive value was 17.2% (confidence interval: 6.7\u201333.5) in the whole series. In conclusion, the simplified <jats:italic>BRCA2<\/jats:italic> classifier based on the co\u2010occurrence of LOH at 13q13 and 14q32 could provide an indication to test for <jats:italic>BRCA2<\/jats:italic> mutation in patients with ER\u2010positive IDC.<\/jats:p>","DOI":"10.1002\/ijc.28315","type":"journal-article","created":{"date-parts":[[2013,6,10]],"date-time":"2013-06-10T15:13:13Z","timestamp":1370877193000},"page":"2834-2842","source":"Crossref","is-referenced-by-count":12,"title":["Loss of heterozygosity at 13q13 and 14q32 predicts <i>BRCA2<\/i> inactivation in luminal breast carcinomas"],"prefix":"10.1002","volume":"133","author":[{"given":"Nicolas","family":"P\u00e9cuchet","sequence":"first","affiliation":[{"name":"Institut Curie, Centre de Recherche Paris France"},{"name":"INSERM U830 Paris France"},{"name":"Department of Tumor Biology Institut Curie Paris 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