GENETIC VARIATION OF THE BRCA1 AND BRCA2 GENES IN MACEDONIAN PATIENTS

Themostsignificantandwellcharacterizedge- netic 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 can- didatesinseekingtoidentifylowpenetrancesus- ceptibilityalleles.�Theaimofthisstudywastoiniti- ate 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 sev- eral single nucleotide polymorphisms (SNPs) in thesegeneswithbreastcancerrisk.�Inthisstudy,� weincluded�100�patientswithinvasivebreastcan- cerfromtheRepublicofMacedonia,�classifiedac- cording to their family history and 100 controls. The methodology included direct sequencing, single nu- cleotide primer extension method and multiplex li- gationprobeamplification �(MLPA)�analysis,�allfol- lowedbycapillaryelectrophoresis�(CE)�onanABI� PRISM™�3130�GeneticAnalyzer.�Weidentifieda� total of seven carriers of mutations in the BRCA1/2