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Germline mutations in the susceptibility genes <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> in hereditary breast\/ovarian cancer, though low in prevalence, are highly penetrant and show geographical variations. There have been only a few reports from Asia on mutations in <jats:italic>BRCA1\/2<\/jats:italic> genes and none from Sri Lanka.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>A total of 130 patients with (N = 66) and without (N = 64) a family history of breast cancer, 70 unaffected individuals with a family history of breast cancer and 40 control subjects were analysed for <jats:italic>BRCA1<\/jats:italic> mutations. All but exon 11 were screened by single strand conformation analysis (SSCP) and heteroduplex analysis. PCR products which showed abnormal patterns in SSCP were sequenced. Exon 11 was directly sequenced.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Nineteen sequence variants were found in <jats:italic>BRCA1<\/jats:italic> gene. Two novel deleterious frame-shift mutations; c.3086delT\/exon11 (in one patient) and c.5404delG\/exon21 (in one patient and two of her family members) were identified. A possibly pathogenic novel missense mutation (c.856T&gt;G\/exon 11) and three novel intronic variants (IVS7+36C&gt;T, IVS7+41C&gt;T, IVS7+49del15) were characterised. Ten previously reported common polymorphisms and three previously reported intronic variants were also observed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>After screening of 66 patients with family history and 64 sporadic breast cancer patients, 2 deleterious mutations (c.3086delT and c.5404delG) in two families were identified and two more possibly pathogenic mutations (c.856T&gt;G and IVS17-2A&gt;T) in two families were identified.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Data base<\/jats:title>\n            <jats:p>\n              <jats:italic>BRCA1<\/jats:italic> - Gene Bank: Accession # U14680 Version # 14680.1<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2407-8-214","type":"journal-article","created":{"date-parts":[[2008,7,29]],"date-time":"2008-07-29T06:14:39Z","timestamp":1217312079000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1gene in Sri Lankan breast cancer patients and at risk individuals"],"prefix":"10.1186","volume":"8","author":[{"given":"Wasanthi","family":"De Silva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric H","family":"Karunanayake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamani H","family":"Tennekoon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Indrani","family":"Amarasinghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Preethika","family":"Angunawala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed H","family":"Ziard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,7,29]]},"reference":[{"key":"1152_CR1","doi-asserted-by":"publisher","first-page":"74","DOI":"10.3322\/canjclin.55.2.74","volume":"55","author":"DM Parkin","year":"2005","unstructured":"Parkin DM, Bray F, Ferlay J, Pisani P: Global Cancer Statistics 2002. 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