{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:42:50Z","timestamp":1789954970854,"version":"4.0.1"},"reference-count":40,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,1,10]],"date-time":"2014-01-10T00:00:00Z","timestamp":1389312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>This study sought to determine the prevalence of <jats:italic>PALB2<\/jats:italic> mutations in a cohort referred for diagnostic testing for hereditary breast cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>Sanger sequencing was used to analyze the entire coding region and flanking introns of <jats:italic>PALB2<\/jats:italic> in anonymized DNA samples from 1479 patients. Samples were stratified into a \u201chigh\u2010risk\u201d group, 955 samples from individuals predicted to have a high probability of carrying a mutation in <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> based on their personal and family history, and a \u201clower\u2010risk\u201d group consisting of 524 samples from patients with breast cancer, but fewer risk factors for being a <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> mutation carrier. All patients were known to be negative for deleterious sequence mutations and large rearrangements in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>We identified 12 disease\u2010associated <jats:italic>PALB2<\/jats:italic> mutations among the 1479 patients (0.8%). The <jats:italic>PALB2<\/jats:italic> mutations included 8 nonsense, 3 frameshift mutations and a splice\u2010site mutation. The mutation prevalence for the high\u2010risk population was 1.05% (95% CI\u2009=\u20090.5\u20101.92), whereas that for the lower\u2010risk population was 0.38% (95% CI\u2009=\u20090.05\u20101.37). We identified 59 <jats:italic>PALB2<\/jats:italic> variants of uncertain significance (VUS) among 57 of the 1479 patients (3.9%).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>These results suggest that <jats:italic>PALB2<\/jats:italic> mutations occur at a frequency of \u223c1% in patients with hereditary breast cancer. <jats:bold><jats:italic>Cancer<\/jats:italic> 2014;120:963\u2013967<\/jats:bold>. \u00a9 <jats:italic>2013 American Cancer Society<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.28504","type":"journal-article","created":{"date-parts":[[2014,1,10]],"date-time":"2014-01-10T16:53:41Z","timestamp":1389372821000},"page":"963-967","source":"Crossref","is-referenced-by-count":23,"title":["Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer"],"prefix":"10.1002","volume":"120","author":[{"given":"Priscilla H.","family":"Fernandes","sequence":"first","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. 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