title: High incidence of 4153delA BRCA1 gene mutations in Lithuanian breast- and breast-ovarian cancer families.
abstract: BRCA1 and BRCA2 gene mutations confer a high lifetime risk to breast and ovarian cancers. We have screened cancer patients from 13 families with at least three breast and/or ovarian cancers from Lithuania for 5382insC, C61G and 4153delA BRCA1 gene mutations. One of three mutations was found in 9 of the 13 studied families (69%). 4153delA was the most frequently detected and accounted for 56% of all identified mutation. 5382insC and C61G accounted for 33% and 11% of found mutations, respectively. Significantly higher, than in other populations, incidence of 4153delA indicates that this may be founder BRCA1 mutation characteristic for Lithuanians. Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers.
authors.affiliation: Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. jgron@uoo.univ.szczecin.pl
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Pavel
authors.initials: P
authors.lastname: Elsakov
authors.forename: Bohdan
authors.initials: B
authors.lastname: Górski
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D015994:Incidence; D008097:Lithuania / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D044465:White People / Q000235:genetics
chemical_list: D019313:BRCA1 Protein