Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families.

J. Papp, L. Raicevic, J. Milasin, B. Dimitrijevic, S. Radulovic, E. Oláh

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1435-1438
Number of pages4
JournalOncology Reports
Volume6
Issue number6
Publication statusPublished - Nov 1999

Fingerprint

BRCA2 Gene
BRCA1 Gene
Germ-Line Mutation
Ovarian Neoplasms
Breast Neoplasms
Mutation
Founder Effect
Population
Breast
Genotype
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Papp, J., Raicevic, L., Milasin, J., Dimitrijevic, B., Radulovic, S., & Oláh, E. (1999). Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families. Oncology Reports, 6(6), 1435-1438.

Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families. / Papp, J.; Raicevic, L.; Milasin, J.; Dimitrijevic, B.; Radulovic, S.; Oláh, E.

In: Oncology Reports, Vol. 6, No. 6, 11.1999, p. 1435-1438.

Research output: Contribution to journalArticle

Papp, J, Raicevic, L, Milasin, J, Dimitrijevic, B, Radulovic, S & Oláh, E 1999, 'Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families.', Oncology Reports, vol. 6, no. 6, pp. 1435-1438.
Papp, J. ; Raicevic, L. ; Milasin, J. ; Dimitrijevic, B. ; Radulovic, S. ; Oláh, E. / Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families. In: Oncology Reports. 1999 ; Vol. 6, No. 6. pp. 1435-1438.
@article{53813405febf4f1487d81ba624b446f9,
title = "Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families.",
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.",
author = "J. Papp and L. Raicevic and J. Milasin and B. Dimitrijevic and S. Radulovic and E. Ol{\'a}h",
year = "1999",
month = "11",
language = "English",
volume = "6",
pages = "1435--1438",
journal = "Oncology Reports",
issn = "1021-335X",
publisher = "Spandidos Publications",
number = "6",

}

TY - JOUR

T1 - Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families.

AU - Papp, J.

AU - Raicevic, L.

AU - Milasin, J.

AU - Dimitrijevic, B.

AU - Radulovic, S.

AU - Oláh, E.

PY - 1999/11

Y1 - 1999/11

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0033227485&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033227485&partnerID=8YFLogxK

M3 - Article

C2 - 10523726

AN - SCOPUS:0033227485

VL - 6

SP - 1435

EP - 1438

JO - Oncology Reports

JF - Oncology Reports

SN - 1021-335X

IS - 6

ER -