{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T12:04:07Z","timestamp":1791029047335,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,8,26]],"date-time":"2011-08-26T00:00:00Z","timestamp":1314316800000},"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":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND:<\/jats:title><jats:p>It has been demonstrated that the partner and localizer of breast cancer 2 (PALB2) acts as a bridging molecule between the breast cancer 1 (BRCA1) and BRCA2 proteins and is responsible for facilitating BRCA2\u2010mediated DNA repair. Truncating mutations in the <jats:italic>PALB2<\/jats:italic> gene reportedly are enriched in patients with Fanconi anemia and breast cancer in various populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>The authors evaluated the contribution of <jats:italic>PALB2<\/jats:italic> germline mutations in 279 African American women with breast cancer, including 29 patients with a strong family history, 29 patients with a moderate family history, 75 patients with a weak family history, and 146 patients with nonfamilial or sporadic breast cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p>After direct sequencing of all the coding exons, exon\/intron boundaries, and 5\u2032 and 3\u2032 untranslated regions of <jats:italic>PALB2<\/jats:italic>, 3 novel, monoallelic, truncating mutations (1.08%; 3 in 279 patients) were identified (c.758dupT [exon 4], c.1479delC [exon 4], and c.3048delT [exon 10]) together with 50 sequence variants, 27 of which were novel. None of the truncating mutations were identified in a group of 262 controls from the same population.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS:<\/jats:title><jats:p><jats:italic>PALB2<\/jats:italic> mutations were present in both familial and nonfamilial breast cancers among African Americans. Rare <jats:italic>PALB2<\/jats:italic> mutations accounted for a small but substantial proportion of patients with breast cancer. Cancer 2012. \u00a9 2011 American Cancer Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.26388","type":"journal-article","created":{"date-parts":[[2011,8,31]],"date-time":"2011-08-31T23:41:33Z","timestamp":1314834093000},"page":"1362-1370","source":"Crossref","is-referenced-by-count":34,"title":["Novel germline <i>PALB2<\/i> truncating mutations in African American breast cancer patients"],"prefix":"10.1002","volume":"118","author":[{"given":"Yonglan","family":"Zheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qun","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dezheng","family":"Huo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olufunmilayo I.","family":"Olopade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,8,26]]},"reference":[{"key":"e_1_2_6_2_2","volume-title":"Breast Cancer Overview","author":"American Cancer Society","year":"2011"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2054"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164339"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-1012"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0809889"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1947"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1942"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1959"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05609"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701724104"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/bcr1828"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-008-9945-0"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-008-0036-z"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-009-9241-0"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-08-3128"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-009-9295-z"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-20"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1001-1"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-010-9382-1"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1290-4"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2796"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1305-1"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-3958"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-011-9426-1"},{"key":"e_1_2_6_26_2","unstructured":"ErkkoH NikkilaJ ButzowR et al.Occurrence of germline PALB2 mutations in ovarian cancer [abstract]. 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