Article
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.
BMC medical genetics - 14 Jan 2011
Stegel Vida, Krajc Mateja, Zgajnar Janez, Teugels Erik, De Grève Jacques, Hočevar Marko, Novaković Srdjan
Abstract excerpt
BACKGROUND: the BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer. METHODS: the BRCA1 and BRCA2 genes were screened using DGGE, PTT, HRM, MLPA and direct sequencing. RESULTS: eighteen different mutations were found in BRCA1 and 13 in BRCA2 gene....
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