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TNBCs share a similar gene expression profile to <jats:italic>BRCA<\/jats:italic>\u2010mutated tumours, have been shown to carry a high proportion of <jats:italic>BRCA<\/jats:italic> mutations and have a more adverse prognosis compared to other types of breast tumours. <jats:italic>PALB2<\/jats:italic> has been shown to be a moderate\u2010penetrance breast cancer susceptibility gene and is involved in the same DNA damage repair pathway as <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>; this raises the possibility that germline <jats:italic>PALB2<\/jats:italic> mutations may be involved in the pathogenesis of TNBCs. In our study, we sequenced the coding regions of <jats:italic>PALB2<\/jats:italic> (including intron\/exon boundaries) in genomic DNA from 347 patients diagnosed with TNBC to determine the prevalence of deleterious mutations in this population. Two novel truncating mutations (c.758dup and c.2390del) and one previously detected truncating mutation (c.3113+5G&gt;C) were found. In addition, five variants predicted to be protein\u2010affecting were also identified. Our study shows that the prevalence of <jats:italic>PALB2<\/jats:italic> germline mutations in individuals with TNBC is \u223c1%, similar to the prevalence of <jats:italic>PALB2<\/jats:italic> germline mutation of 1% in familial non\u2010<jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> breast cancer cohorts.<\/jats:p>","DOI":"10.1002\/ijc.28361","type":"journal-article","created":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T23:26:22Z","timestamp":1372893982000},"page":"301-305","source":"Crossref","is-referenced-by-count":12,"title":["Low prevalence of germline <i>PALB2<\/i> mutations in Australian triple\u2010negative breast cancer"],"prefix":"10.1002","volume":"134","author":[{"given":"Michelle W.","family":"Wong\u2010Brown","sequence":"first","affiliation":[{"name":"School of Biomedical Sciences &amp; Pharmacy Centre for Information\u2010Based Medicine University of Newcastle, Hunter Medical Research Institute Newcastle NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly A.","family":"Avery\u2010Kiejda","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences &amp; 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