ILE655VAL Genotyping Study of HER2 - Positive Breast Cancer of Patients from Padang - Indonesia With High Resolution Melting Technique
Dwi Wulandari, Azamris Azamris, Isna Nurhayati, M Ali Warisman, Bugi Ratno Budiarto, Desriani Desriani
Annales Bogorienses Vol. 21, No. 2: 69-75
Trastuzumab has proven to be a great improvement in the treatment of HER2+ breast cancer patients, but it is associated with relevant adverse cardiac events and significantly elevated cost of treatment. One of the risk factor for cardiotoxicity due to trastuzumab is the I655V HER2 polymorphism (GTC> ATC mutation) in which the allele mutant (Ile/Val or Val/Val) has a higher risk than the wild type (Ile/Ile). The detection of specific alleles is very important for therapeutic decision-making. In this study, our group has developed a high resolution melting (HRM) with EvaGreen dye method to discriminate specific allele of I655V HER2 (wild type, heterozygote mutant or homozygote mutant) in 66 frozen section samples of HER2+ breast cancer patients. Our study revealed that the wild type is the most prevalent allele (77,27%), whereas heterozygous mutation is significantly present in this research (21.21%) and around 1.52% of samples were detected as minor allele. Only one sample was detected as a minor allele (Val/Val) and may have relatively low abundance in the population. This method has been compared to Sanger sequencing and shows 100% of validity.
Keywords: Breast cancer, HER2, I655V, HRM, allele
Disusun oleh: Ludya AB/Pustakawan