The frequency of germline BRCA1 and BRCA2 mutations was tested in Yugoslav breast and breast/ovarian cancer families using combined heteroduplex/single-strand conformation polymorphism analysis for the entire coding region of both genes. Three different recurrent BRCA1 mutations (one 185delAG, one 3447del4 and two 5382insC) were identified in 4 of 12 families (33%), whereas no definite disease-causing alterations of BRCA2 was detected. Genotype analysis revealed a possible common founder effect for each 185delAG and 5382insC. The relatively high frequency of germline BRCA1 mutations determined in this panel of families confirms the important role of BRCA1 in disease predisposition in the Yugoslav population, while the lack of population specific founder and/or unique mutations show the need of further analysis of samples from this yet unexamined region of Europe.
TY - JOUR
AU - Papp, J
AU - Raicević, L
AU - Milašin, Jelena
AU - Dimitrijević, B.
AU - Radulović, Siniša
AU - Olah, E
PY - 1999
UR - https://smile.stomf.bg.ac.rs/handle/123456789/1103
AB - The frequency of germline BRCA1 and BRCA2 mutations was tested in Yugoslav breast and breast/ovarian cancer families using combined heteroduplex/single-strand conformation polymorphism analysis for the entire coding region of both genes. Three different recurrent BRCA1 mutations (one 185delAG, one 3447del4 and two 5382insC) were identified in 4 of 12 families (33%), whereas no definite disease-causing alterations of BRCA2 was detected. Genotype analysis revealed a possible common founder effect for each 185delAG and 5382insC. The relatively high frequency of germline BRCA1 mutations determined in this panel of families confirms the important role of BRCA1 in disease predisposition in the Yugoslav population, while the lack of population specific founder and/or unique mutations show the need of further analysis of samples from this yet unexamined region of Europe.
T2 - Oncology reports
T1 - Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families
VL - 6
IS - 6
SP - 1435
EP - 1438
UR - https://hdl.handle.net/21.15107/rcub_vinar_2281
ER -
@article{
author = "Papp, J and Raicević, L and Milašin, Jelena and Dimitrijević, B. and Radulović, Siniša and Olah, E",
year = "1999",
abstract = "The frequency of germline BRCA1 and BRCA2 mutations was tested in Yugoslav breast and breast/ovarian cancer families using combined heteroduplex/single-strand conformation polymorphism analysis for the entire coding region of both genes. Three different recurrent BRCA1 mutations (one 185delAG, one 3447del4 and two 5382insC) were identified in 4 of 12 families (33%), whereas no definite disease-causing alterations of BRCA2 was detected. Genotype analysis revealed a possible common founder effect for each 185delAG and 5382insC. The relatively high frequency of germline BRCA1 mutations determined in this panel of families confirms the important role of BRCA1 in disease predisposition in the Yugoslav population, while the lack of population specific founder and/or unique mutations show the need of further analysis of samples from this yet unexamined region of Europe.",
journal = "Oncology reports",
title = "Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families",
volume = "6",
number = "6",
pages = "1435-1438",
url = "https://hdl.handle.net/21.15107/rcub_vinar_2281"
}
Papp, J., Raicević, L., Milašin, J., Dimitrijević, B., Radulović, S.,& Olah, E.. (1999). Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families. in Oncology reports, 6(6), 1435-1438.
https://hdl.handle.net/21.15107/rcub_vinar_2281
Papp J, Raicević L, Milašin J, Dimitrijević B, Radulović S, Olah E. Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families. in Oncology reports. 1999;6(6):1435-1438.
https://hdl.handle.net/21.15107/rcub_vinar_2281 .
Papp, J, Raicević, L, Milašin, Jelena, Dimitrijević, B., Radulović, Siniša, Olah, E, "Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families" in Oncology reports, 6, no. 6 (1999):1435-1438,
https://hdl.handle.net/21.15107/rcub_vinar_2281 .
