{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:22:51Z","timestamp":1790400171210,"version":"4.1.0"},"reference-count":15,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,1,27]]},"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Germline mutations in the <jats:italic>PALB2<\/jats:italic> gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which <jats:italic>PALB2<\/jats:italic> mutations account for cancer susceptibility in breast\u2013pancreas cancer families is unknown.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>High Resolution Melting analysis and Multiplex Ligation-dependent Probe Amplification were performed to investigate the prevalence of <jats:italic>PALB2<\/jats:italic> mutations in patients with either a personal history of both breast and pancreatic cancer or a personal history of breast cancer and a family history of a first degree relative with pancreatic cancer.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>No <jats:italic>PALB2<\/jats:italic> mutations were identified in 77 breast\u2013pancreas cancer families, which included 22 probands with a personal history of both breast and pancreatic cancer.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Mutations within the <jats:italic>PALB2<\/jats:italic> gene are rare events that do not account for a substantial proportion of cancer susceptibility in breast\u2013pancreas cancer families. Routine screening of breast\u2013pancreas cancer families for the presence of <jats:italic>PALB2<\/jats:italic> mutations appears to be low yield.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.087379","type":"journal-article","created":{"date-parts":[[2011,3,17]],"date-time":"2011-03-17T23:07:41Z","timestamp":1300403261000},"page":"523-525","source":"Crossref","is-referenced-by-count":24,"title":["Germline <i>PALB2<\/i> mutation analysis in breast\u2013pancreas cancer families: Table 1"],"prefix":"10.1136","volume":"48","author":[{"given":"Zsofia K","family":"Stadler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Salo-Mullen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Sabbaghian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara H","family":"Olson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kurtz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William D","family":"Foulkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E","family":"Robson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Tischkowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,3,17]]},"reference":[{"key":"2025101712293683000_48.8.523.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.05.022"},{"key":"2025101712293683000_48.8.523.2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-1012"},{"key":"2025101712293683000_48.8.523.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.1171202"},{"key":"2025101712293683000_48.8.523.4","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2009.06.055"},{"key":"2025101712293683000_48.8.523.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01425.x"},{"key":"2025101712293683000_48.8.523.6","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1200\/JCO.1998.16.7.2417","article-title":"Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk","volume":"16","author":"Frank","year":"1998","journal-title":"J Clin Oncol"},{"key":"2025101712293683000_48.8.523.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)91484-1"},{"key":"2025101712293683000_48.8.523.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-126"},{"key":"2025101712293683000_48.8.523.9","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.20.6.1480"},{"key":"2025101712293683000_48.8.523.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017996"},{"key":"2025101712293683000_48.8.523.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031989"},{"key":"2025101712293683000_48.8.523.12","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-010-9348-3"},{"key":"2025101712293683000_48.8.523.13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20951"},{"key":"2025101712293683000_48.8.523.14","doi-asserted-by":"publisher","DOI":"10.1186\/bcr1828"},{"key":"2025101712293683000_48.8.523.15","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1001-1"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2010.087379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:29:41Z","timestamp":1760729381000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2010.087379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,17]]},"references-count":15,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2011,7,21]]},"published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1136\/jmg.2010.087379"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2010.087379","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,3,17]]}}}