Oncology

Hereditary Cancer Testing

This genetic testing identifies inherited mutations that increase the risk of certain cancers. It focuses on genes passed from parents to children. The test can assess cancer risk, guide early screening, prevention, and treatment, and inform family members about potential risks. Common genes tested are BRCA1/BRCA2 (linked to breast and ovarian cancer), MLH1, MSH2, MSH6, PMS2 (linked to Lynch syndrome which is an inherited genetic condition that significantly raises a person’s risk of developing cancer (colon, endometrial cancer), and TP53 (is a regulatory transcription factor protein that is often mutated in human cancers and is associated with Li-Fraumeni syndrome). The DNA test is done via a blood sample or a saliva sample.

Genetic Risk Assessment

This is the process of evaluating an individual’s likelihood of having or passing on a genetic disorder based on personal, family, and genetic information. The purpose of genetic testing is to identify risk for inherited diseases, and guide decisions on screening, prevention, or treatment. Commonly assessed conditions are cancer syndromes (e.g., BRCA-related), and cardiovascular disorders. A Polygenic Risk Score (PRS) estimates an individual’s genetic risk for a disease based on the combined effect of many common genetic variants (SNPs), each contributing a small amount. PRS is calculated using genome-wide data and is applied to complex diseases influenced by multiple genes. PRS predicts disease risk, guides early intervention and lifestyle changes, and supports personalized medicine. The PRS is not diagnostic but provides a risk estimate relative to the general population.

Early Tumor Detection

Early tumor detection aims to identify cancer at an initial stage, improving treatment outcomes and survival rates. Enables early treatment, reduces cancer-related mortality, and improves quality of life. Regular screening is key, especially for high-risk individuals. The methods include imaging )mammography, CT scan, MRI, ultrasound), non- invasive blood tests (PanTum Detect test, tumor biomarkers such as PSA, and CA-125, and cancer DNA), and screening tests (Pap smear, colonoscopy, low-dose CT for lung cancer). The PanTum Detect Test is an accurate and non-invasive blood test that can detect the presence of any kind of tumor via analysing unique biomarkers common to many solid tumors. A screening program incorporating the PanTum Detect test and imaging, enables the detection of asymptomatic individuals who might have otherwise remained undetected.

Leukemia – Associated Translocations

Chromosomal translocations are common in leukemia and help in diagnosis, prognosis, and treatment selection. These translocations are detected via cytogenetics, FISH, or PCR and are critical for disease classification and targeted therapy. Key Translocations include:

  • t(9;22)(q34;q11) – Philadelphia chromosome, seen in Chronic Myeloid Leukemia (CML), some Acute Lymphoblastic Leukemia (ALL). The gene fusion is BCR-ABL1.
  • t(8;21)(q22;q22) - seen in Acute Myeloid Leukemia (AML). The gene fusion is: RUNX1-RUNX1T1.
  • inv(16)(p13q22) or t(16;16) - seen in AML (M4 subtype with eosinophilia). The gene fusion is: CBFB-MYH11.
  • t(15;17)(q24;q21) - seen in Acute Promyelocytic Leukemia (APL). The gene fusion is: PML-RARA.
  • t(12;21)(p13;q22) - seen in Pediatric ALL. The gene fusion is: ETV6-RUNX1 (good prognosis).

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