{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:16:43Z","timestamp":1791037003446,"version":"4.1.0"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,2,1]]},"abstract":"<jats:p>Germline mutations in either of the two major breast cancer predisposition genes, <jats:italic>BRCA1<\/jats:italic> and<jats:italic>BRCA2<\/jats:italic>, account for a significant proportion of hereditary breast\/ovarian cancer. Identification of breast cancer patients carrying mutations of these genes is primarily based on a positive family history of breast\/ovarian cancer or early onset of the disease or both. In the course of mutation screening of the<jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>genes in a hospital based series of patients with risk factors for hereditary breast\/ovarian cancer, we identified a germline mutation in the <jats:italic>BRCA2<\/jats:italic> gene (3034del4) in a patient with early onset breast cancer and no strong family history of the disease. Subsequent molecular analysis in her parents showed that neither of them carried the mutation. Paternity was confirmed using a set of highly polymorphic markers, showing that the proband carried a de novo germline mutation in the <jats:italic>BRCA2<\/jats:italic> gene. Interestingly, 3034del4 is a recurrent mutation occurring in a putative mutation prone region of the <jats:italic>BRCA2<\/jats:italic> gene. Our study presents the first case in which a de novo germline mutation in the <jats:italic>BRCA2<\/jats:italic> gene has been identified, and supports previous results of haplotype studies, confirming that the 3034del4 mutation has multiple independent origins.<\/jats:p>","DOI":"10.1136\/jmg.38.2.102","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"102-105","source":"Crossref","is-referenced-by-count":31,"title":["De novo recurrent germline mutation of the<i>BRCA2<\/i> gene in a patient with early onset breast cancer"],"prefix":"10.1136","volume":"38","author":[{"given":"Rob B","family":"van der Luijt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick H A","family":"van Zon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rum\u00f3 P M","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla J M","family":"van der Sijs-Bos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla C","family":"W\u00e1rl\u00e1m-Rodenhuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margreet G E M","family":"Ausems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,2,1]]},"reference":[{"key":"2025100520484012000_38.2.102.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7545954"},{"key":"2025100520484012000_38.2.102.2","doi-asserted-by":"publisher","DOI":"10.1038\/378789a0"},{"key":"2025100520484012000_38.2.102.3","first-page":"1","article-title":"Population genetics of BRCA1 and BRCA2.","volume":"60","author":"Szabo","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025100520484012000_38.2.102.4","first-page":"271","article-title":"Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.","volume":"58","author":"Neuhausen","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025100520484012000_38.2.102.5","doi-asserted-by":"publisher","DOI":"10.1086\/301885"},{"key":"2025100520484012000_38.2.102.6","doi-asserted-by":"publisher","DOI":"10.1086\/302503"},{"key":"2025100520484012000_38.2.102.7","first-page":"91","article-title":"A prospective study on risk factors for hereditary breast cancer in a hospital-based series of breast cancer patients.","volume":"67","author":"Ausems","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2025100520484012000_38.2.102.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejcn.1600903"},{"key":"2025100520484012000_38.2.102.9","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6690235"},{"key":"2025100520484012000_38.2.102.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-208"},{"key":"2025100520484012000_38.2.102.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02347-3"},{"key":"2025100520484012000_38.2.102.12","doi-asserted-by":"crossref","unstructured":"Vogel F Motulsky AG (1986) Frequency of new mutations in autosomal dominant disease and biologic fitness. 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(BIOS Scientific Publishers Limited, Oxford), pp 163\u2013208."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.2.102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:48:50Z","timestamp":1759722530000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.2.102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,2,1]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2001,2,1]]},"published-print":{"date-parts":[[2001,2,1]]}},"alternative-id":["10.1136\/jmg.38.2.102"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.2.102","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,2,1]]}}}