Breast & Ovarian Cancer
Traditionally, treatment decisions for breast cancer have been based on three main biomarkers: ER (estrogen receptor 1, or ESR1), PR (progesterone receptor, or PGR), and HER2 (erb-b2 receptor tyrosine kinase 2, or ERBB2). FDA has approved the use of targeted treatment in breast cancer which include Ado-trastuzumab emtansine, Pertuzumab, Trastuzumab, Lapatinib and Neratinib that targets HER2 mutation. Other biomarkers (AKT1, FGFR, PIK3CA and PTEN) have been identified and various clinical trials have been ongoing in developing effective targeted therapies that match these mutations.
For ovarian cancer, approximately 50% of high grade ovarian cancers is due to somatic alterations in BRCA1/2 and other genes associated with DNA repair. FDA has approved the use of Olaparib and Rucaparib to treat advanced ovarian cancer with mutations in one of the BRCA genes. Other biomarkers (BRAF, KRAS, PIK3CA and PTEN) which may have important therapeutic implications and potential for small molecule targeted therapy in ovarian cancer have been identified.
90% of breast cancers are sporadic (spontaneous mutation) while 5-10% are hereditary (inherited from parents). Mutation in the highly penetrant genes, BRCA1 and BRCA 2 account for about 50% of hereditary breast cancer. Mutations in BRCA1 and BRCA2 are also responsible for most inherited ovarian cancers. Individuals who inherit BRCA1 or BRCA2 mutations have an increased lifetime risk of developing breast and ovarian cancer. Hereditary breast and ovarian cancers tend to occur earlier in life (<50 years old) compared to non-inherited sporadic cases[1-3]. Genetic testing on BRCA mutations for people with high risk is recommended for better health care planning and early diagnosis of breast and ovarian cancer.
BRCA genes mutation increases the risk of developing breast cancer.
BRCA genes mutation increases the risk of developing ovarian cancer.
Oncode offers range of PCR sequencing and next-generation sequencing (NGS) tests for the molecular profiling of breast and ovarian cancers.
Table 1: 28 genes mutation panel
Table 2: 67 genes mutation panel
1. Balko, J., Mayer, I., Levy, M. & Arteaga. C. (2016). Molecular Profiling of Breast Cancer. My Cancer Genome. READ MORE
2. Fadare, O. & Khabele, D. (2016). Molecular Profiling of Epithelial Ovarian Cancer. My Cancer Genome. READ MORE
3. Castera L, et al. (2014). Next-Generation Sequencing for the Diagnosis of Hereditary Breast and Ovarian Cancer Using Genomic Capture Targeting Multiple Candidate Genes. European Journal of Human Genetics 22(11):1305-13.