{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T23:02:54Z","timestamp":1773356574012,"version":"3.50.1"},"reference-count":56,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,3,24]],"date-time":"2004-03-24T00:00:00Z","timestamp":1080086400000},"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":[[2004,7,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germ\u2010line mutations within <jats:italic>BRCA1<\/jats:italic> are responsible for different proportions of inherited susceptibility to breast\/ovarian cancer, and the spectrum of mutations within this gene is often unique to certain populations. At this time, there have been no reports regarding the role of <jats:italic>BRCA1<\/jats:italic> in South African breast and\/or ovarian cancer families. We therefore screened 90 South African breast\/ovarian cancer families for <jats:italic>BRCA1<\/jats:italic> mutations by means of PCR\u2010based mutation detection assays. Eighteen families (20%) were identified with <jats:italic>BRCA1<\/jats:italic> disease\u2010causing mutations. Four Ashkenazi Jewish families were identified with the 185delAG mutation, whereas 2 Afrikaner and 1 Ashkenazi Jewish family were found to harbor the 5382insC mutation. Five of the families (5.56%), all of whom are Afrikaners, were found to carry the novel E881X mutation. Genotype analyses show that these patients share a common ancestor. Genealogic studies have identified 3 possible founding couples for this mutation, all of whom arrived in the Cape from France in the late 1600s. Of the remaining mutations detected, 3 have not been reported previously and include the S451X, 1493delC (detected twice) and 4957insC mutations. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.20186","type":"journal-article","created":{"date-parts":[[2004,4,16]],"date-time":"2004-04-16T07:06:56Z","timestamp":1082099216000},"page":"677-682","source":"Crossref","is-referenced-by-count":46,"title":["<i>BRCA1<\/i> mutations in South African breast and\/or ovarian cancer families: Evidence of a novel founder mutation in Afrikaner families"],"prefix":"10.1002","volume":"110","author":[{"given":"Michelle D.","family":"Reeves","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tali M.","family":"Yawitch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nerina C.","family":"van der 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