{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T16:02:55Z","timestamp":1791129775919,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2001,10,24]],"date-time":"2001-10-24T00:00:00Z","timestamp":1003881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2002,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The main focus of this German\u2010wide multi\u2010center study was to establish a <jats:italic>BRCA1<\/jats:italic><jats:italic>\/<\/jats:italic><jats:italic>2<\/jats:italic> mutation profile and to determine family types with high frequencies of mutations in these genes. In a comprehensive study, the entire coding sequences of the breast cancer genes <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> were analyzed in 989 unrelated patients from German breast\/ovarian cancer families. A total of 77 <jats:italic>BRCA1<\/jats:italic> and 63 <jats:italic>BRCA2<\/jats:italic> distinct deleterious mutations were found in 302 patients. More than \u2153 of these mutations are novel and might be specific for the German population. Eighteen common mutations were found in 68% of cases in <jats:italic>BRCA1<\/jats:italic> and 13 recurrent mutations in 44% of cases in <jats:italic>BRCA2<\/jats:italic>, facilitating prescreening approaches. Haplotype analysis indicate that 14 out of 20 recurrent mutations are likely originating from a common founder. An additional 50 different rare sequence variants with unknown relevance for tumorigenesis were found in 72 families. Correlation of <jats:italic>BRCA1<\/jats:italic><jats:italic>\/<\/jats:italic><jats:italic>BRCA2<\/jats:italic> detection rates with family history identified families with both breast and ovarian cancer to be at highest risk for <jats:italic>BRCA1<\/jats:italic><jats:italic>\/<\/jats:italic><jats:italic>BRCA2<\/jats:italic> mutations (43% and 10%, respectively), followed by families with at least 2 premenopausal cases of breast cancer (24% <jats:italic>BRCA1<\/jats:italic> and 13% <jats:italic>BRCA2<\/jats:italic> mutations). These data provide strong evidence for further predisposing genes in the German population. In breast cancer families with 2 or 3 affected females but only a single or no premenopausal case, mutations were detected with low frequencies (about 10% or less for both genes). The decision for or against molecular diagnosis is now aided by considering the expected mutation detection rates that greatly depend on family history and structure. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.1626","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:33:59Z","timestamp":1030293239000},"page":"472-480","source":"Crossref","is-referenced-by-count":180,"title":["Comprehensive analysis of 989 patients with breast or ovarian cancer provides <i>BRCA1<\/i> and <i>BRCA2<\/i> mutation profiles and frequencies for the German population"],"prefix":"10.1002","volume":"97","author":[{"name":"German Consortium for Hereditary Breast and Ovarian 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