title: Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast             and ovarian cancer families.
abstract: The estimated proportion of hereditary breast and ovarian cancers among             all breast and ovarian cancer cases is 5-10%. According to the literature, inherited             mutations in the BRCA1 and BRCA2 tumour-suppressor genes, account for the majority             of hereditary breast and ovarian cancer cases. The aim of this report is to present             novel mutations that have not yet been described in the literature and pathogenic             BRCA1 and BRCA2 mutations which have been detected in HBOC families for the first             time in the last three years. In the period between January 2009 and December             2011, 559 individuals from 379 families affected with breast and/or ovarian cancer             were screened for mutations in the BRCA1 and BRCA2 genes. Three novel mutations             were detected: one in BRCA1 - c.1193C>A (p.Ser398*) and two in BRCA2 - c.5101C>T             (p.Gln1701*) and c.5433_5436delGGAA (p.Glu1811Aspfs*3). These novel mutations             are located in the exons 11 of BRCA1 or BRCA2 and encode truncated proteins. Two             of them are nonsense while one is a frameshift mutation. Also, 11 previously known             pathogenic mutations were detected for the first time in the HBOC families studied             here (three in BRCA1 and eight in BRCA2). All, except one cause premature formation             of stop codons leading to truncation of the respective BRCA1 or BRCA2 proteins.
authors.affiliation: Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia. snovakovic@onko-i.si
authors.forename: Srdjan
authors.initials: S
authors.lastname: Novaković
authors.forename: Maša
authors.initials: M
authors.lastname: Milatović
authors.forename: Petra
authors.initials: P
authors.lastname: Cerkovnik
authors.forename: Vida
authors.initials: V
authors.lastname: Stegel
authors.forename: Mateja
authors.initials: M
authors.lastname: Krajc
authors.forename: Marko
authors.initials: M
authors.lastname: Hočevar
authors.forename: Janez
authors.initials: J
authors.lastname: Zgajnar
authors.forename: Aleš
authors.initials: A
authors.lastname: Vakselj
mesh_terms: D000328:Adult; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D017524:Slovenia; D044465:White People / Q000235:genetics*