<abstract xmlns="http://www.w3.org/1999/xhtml"><p> The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the <italic>BRCA1 </italic>and <italic>BRCA2</italic> genes. The <italic>BRCA1 </italic>and <italic>BRCA2 </italic>gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these genes are logical candidates in seeking to identify low penetrance susceptibility alleles. The aim of this study was to initiate a screen for <italic>BRCA1/2 </italic>gene mutations in order to identify the genetic variants in the Republic of Macedonia, and to evaluate the association of several single nucleotide polymorphisms (SNPs) in these genes with breast cancer risk. In this study, we included 100 patients with invasive breast cancer from the Republic of Macedonia, classified according to their family history and 100 controls. The methodology included direct sequencing, single nucleotide primer extension method and multiplex ligation probe amplification (MLPA) analysis, all followed by capillary electrophoresis (CE) on an ABI PRISM™ 3130 Genetic Analyzer. We identified a total of seven carriers of mutations in the <italic>BRCA1/2</italic> genes. None of the tested polymorphisms was associated with sporadic breast cancer risk, however, polymorphism rs8176267 in <italic>BRCA1 </italic>and N372H in <italic>BRCA2 </italic>showed an association with breast cancer risk in patients with at least one family member with breast cancer.</p></abstract>

The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these genes are logical candidates in seeking to identify low penetrance susceptibility alleles. The aim of this study was to initiate a screen for BRCA1/2 gene mutations in order to identify the genetic variants in the Republic of Macedonia, and to evaluate the association of several single nucleotide polymorphisms (SNPs) in these genes with breast cancer risk. In this study, we included 100 patients with invasive breast cancer from the Republic of Macedonia, classified according to their family history and 100 controls. The methodology included direct sequencing, single nucleotide primer extension method and multiplex ligation probe amplification (MLPA) analysis, all followed by capillary electrophoresis (CE) on an ABI PRISM™ 3130 Genetic Analyzer. We identified a total of seven carriers of mutations in the BRCA1/2 genes. None of the tested polymorphisms was associated with sporadic breast cancer risk, however, polymorphism rs8176267 in BRCA1 and N372H in BRCA2 showed an association with breast cancer risk in patients with at least one family member with breast cancer.

Genetic Variation of The BRCA1 and BRCA2 Genes in Macedonian Patients

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, Skopje 1000, Republic of Macedonia

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Science and Arts, Skopje, Republic of Macedonia

Clinic for Oncology and Radiotherapy, Skopje, Republic of Macedonia

Clinic for Thoracic Surgery, Skopje, Republic of Macedonia

Re-Medika General Hospital, Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

{"article-title":"Genetic Variation of The BRCA1 and BRCA2 Genes in Macedonian Patients"}

The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The...

Genetic Variation of The BRCA1 and BRCA2 Genes in Macedonian Patients

Publié en ligne: 22 déc. 2012

Pages: 81 - 85

DOI: https://doi.org/10.2478/v10034-012-0025-8

This content is open access.