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[1].

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[2].

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.

ONCODEcipher Breast & Ovarian Liquid28
ONCODEcipher Breast & Ovarian Liquid28 is a NGS panel that delivers information on a variety of treatment-informative mutations in the 28 genes which are known to play a role in cases of breast and ovarian cancer using only the blood of the patients.

Specimen Requirements:
15ml blood in Streck tubes

Turn Around Time:
10 working days

Shipment Requirement:
Keep specimen at room temperature. DO NOT ship on ice or dry ice or expose to direct sunlight.
ONCODEcipher Breast & Ovarian Comprehensive
ONCODEcipher Breast & Ovarian Comprehensive is a NGS panel that simultaneously detects and characterizes single nucleotide polymorphisms (SNVs) and insertions and deletions (indels) in 67 genes associated with solid tumours.

Specimen Requirements:
• FFPE block OR 10 FFPE Slides (10µm thick sections) with at least 30% tumour cellularity
• 1 H&E stained slide cut from same block

Turn Around Time:
10 working days

Shipment Requirement:
Keep specimen at room temperature. DO NOT ship on ice or dry ice or expose to direct sunlight.
ONCODEcipher BRCA1/2 (germline)
ONCODEcipher BRCA1/2 (germline) is a robust targeted NGS assay along with Multiplex Ligation-Dependent Probe Amplification (MLPA) to simultaneously detect and characterize all known germline mutations, including SNP, insertions, and deletions, in BRCA1 and BRCA2 with full exon coverage.

MLPA represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation (e.g. BRCA1/2 genes). Number of studies have demonstrated that gene deletions/duplications in BRCA genes are detectable in a portion of cases which are negative to the screening of point mutations (false negative).

Specimen Requirements:
3ml blood in EDTA tubes

Turn Around Time:
10 working days

Shipment Requirement:
Keep specimen at room temperature. DO NOT ship on ice or dry ice or expose to direct sunlight.
References:
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.