{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T10:21:13Z","timestamp":1790850073741,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,6,3]],"date-time":"2003-06-03T00:00:00Z","timestamp":1054598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Mataro-TV3","award":["49\/95"],"award-info":[{"award-number":["49\/95"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2003,9,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Our aim was to estimate the prevalence of mutations in the <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes among unselected incident cases of breast cancer in young women. We identified 158 incident breast cancer cases diagnosed before age 46 years in predefined geographic areas in Girona and Tarragona, Spain, during 1995\u20131997. Of these, 136 (86%) provided information on family history of cancer and were screened for <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations. Nine of the 136 (6.6%) were found to carry <jats:italic>BRCA<\/jats:italic> deleterious mutations (MUT) (1 <jats:italic>BRCA1<\/jats:italic> and 8 <jats:italic>BRCA2<\/jats:italic>), and 20 were detected with rare <jats:italic>BRCA<\/jats:italic> variants of unknown significance (UV). Both MUT and US <jats:italic>BRCA<\/jats:italic> alterations were more frequent in younger patients: 7 (11.6%) MUT and 12 (19.3%) UV carriers were found in the group of 62 patients younger than 40 years, whereas 2 (2.7%) MUT and 9 (12%) US carriers were identified in the group of 74 patients aged 40\u201345. Family history of breast and ovarian cancers suggestive of hereditary condition (at least 2 first\u2010 or second\u2010degree relatives affected with breast cancer or at least 1 relative affected with ovarian cancer or early\u2010onset breast cancer) was absent for 5 of 9 MUT carriers. This suggests that <jats:italic>BRCA<\/jats:italic> screening policies based on family history of cancer would miss a considerable proportion of <jats:italic>BRCA<\/jats:italic> mutations. Mutations in the <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes explain at least 10% of breast cancer cases diagnosed before age 40 years. The contribution of these genes to early\u2010onset breast cancer is likely to be even higher given that certain UV cases might be disease\u2010associated. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.11271","type":"journal-article","created":{"date-parts":[[2003,7,2]],"date-time":"2003-07-02T10:03:23Z","timestamp":1057140203000},"page":"588-593","source":"Crossref","is-referenced-by-count":88,"title":["Prevalence of <i>BRCA1<\/i> and <i>BRCA2<\/i> germline mutations in young breast cancer patients: A population\u2010based study"],"prefix":"10.1002","volume":"106","author":[{"given":"Silvia","family":"de Sanjos\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"L\u00e9on\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"B\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeca","family":"Font","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan M.","family":"Brunet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Louat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Vilardell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Borras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pau","family":"Viladiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. 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