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The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in <jats:italic>BRCA1\/2<\/jats:italic> genes in high-risk Czech families.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Methods<\/jats:title>\n                        <jats:p>A total of 96 Czech families with recurrent breast and\/or ovarian cancer and 55 patients considered to be at high-risk but with no reported family history of cancer were screened for mutations in the <jats:italic>BRCA1\/2<\/jats:italic> genes. The entire coding sequence of each gene was analyzed using a combination of the protein truncation test and direct DNA sequencing.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>A total of 35 mutations in the <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> genes were identified in high-risk families (36.5%). Pathogenic mutations were found in 23.3% of breast cancer families and in 59.4% of families with the occurrence of both breast and ovarian cancer. In addition, four mutations were detected in 31 (12.9%) women with early onset breast cancer. One mutation was detected in seven (14.3%) patients affected with both a primary breast and ovarian cancer and another in three (33.3%) patients with a bilateral breast cancer. A total of 3 mutations in <jats:italic>BRCA1<\/jats:italic> were identified among 14 (21.4%) women with a medullary breast carcinoma. Of 151 analyzed individuals, 35 (23.2%) carried a <jats:italic>BRCA1<\/jats:italic> mutation and 9 (6.0%) a <jats:italic>BRCA2<\/jats:italic> mutation. One novel truncating mutation was found in <jats:italic>BRCA1<\/jats:italic> (c.1747A&gt;T) and two in <jats:italic>BRCA2<\/jats:italic> (c.3939delC and c.5763dupT). The 35 identified <jats:italic>BRCA1<\/jats:italic> mutations comprised 13 different alterations. Three recurrent mutations accounted for 71.4% of unrelated individuals with detected gene alterations. The <jats:italic>BRCA1<\/jats:italic> c.5266dupC (5382insC) was detected in 51.4% of mutation positive women. The mutations c.3700_3704del5 and c.181T&gt;G (300T&gt;G) contributed to 11.4% and 8.6% of pathogenic mutations, respectively. A total of eight different mutations were identified in <jats:italic>BRCA2<\/jats:italic>. The novel c.5763dupT mutation, which appeared in two unrelated families, was the only recurrent alteration of the <jats:italic>BRCA2<\/jats:italic> gene identified in this study.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusion<\/jats:title>\n                        <jats:p>Mutational analysis of <jats:italic>BRCA1\/2<\/jats:italic> genes in 151 high-risk patients characterized the spectrum of gene alterations and demonstrated the dominant role of the <jats:italic>BRCA1<\/jats:italic> c.5266dupC allele in hereditary breast and ovarian cancer.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/bcr1282","type":"journal-article","created":{"date-parts":[[2005,7,26]],"date-time":"2005-07-26T20:55:33Z","timestamp":1122411333000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area"],"prefix":"10.1186","volume":"7","author":[{"given":"Petr","family":"Pohlreich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Zikan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Stribrna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zdenek","family":"Kleibl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marketa","family":"Janatova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaroslav","family":"Kotlas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Zidovska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Novotny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubos","family":"Petruzelka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Csilla","family":"Szabo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bohuslav","family":"Matous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,7,19]]},"reference":[{"key":"1267_CR1","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1126\/science.2270482","volume":"250","author":"JM Hall","year":"1990","unstructured":"Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC: Linkage of early-onset familial breast cancer to chromosome 17q21. 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