High incidence of 4153delA BRCA1 gene mutations in Lithuanian breast- and breast-ovarian cancer families.
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.
Gronwald
Jacek
J
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. jgron@uoo.univ.szczecin.pl
Elsakov
Pavel
P
Górski
Bohdan
B
Lubiński
Jan
J
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
D019313:BRCA1 Protein