Cancer is a complex disease characterized by uncontrolled cell division and proliferation, influenced by environmental conditions and genetic factors. There are over 100 known types of cancer that affect the human body. Globally, it is estimated that 10 million people are diagnosed with cancer each year, and this number is expected to increase in the coming years.

Cancer screenings are crucial for early diagnosis. Moreover, advancements in genetics have enabled personalized treatment options for certain cancer types. Through genetic counseling, it is possible to assess risks for future generations and plan appropriate genetic tests.

ALK Mutation Analysis Test
The Anaplastic Lymphoma Kinase (ALK) gene is essential for the development of brain and nerve cells, encoding ALK receptors. ALK (2p23) gene rearrangements are observed in anaplastic large-cell lymphoma (ALCL), a type of systemic T-cell non-Hodgkin lymphoma. About 75% of patients show a t(2;5)(p23;q35) translocation between the ALK and NPM gene regions, associated with poor prognosis. In metastatic non-small cell lung cancer (NSCLC) patients with ALK mutation, response to ALK TKI therapy is 50–61%.

BRCA1-2 Mutation Analysis Test
Mutations in the BRCA1 and BRCA2 genes increase susceptibility to breast cancer. Normally, these genes maintain DNA stability and prevent uncontrolled cell growth, acting as tumor suppressors. Individuals carrying harmful BRCA1 or BRCA2 mutations have a significantly higher lifetime risk of developing breast and/or ovarian cancer. About 70–90% of carriers develop one of these cancers. Genetic testing can confirm hereditary breast cancer risk in affected families.

BRAF Gene V600E Mutation
The BRAF gene codes for a serine/threonine kinase protein involved in the MAPK signaling pathway, controlling cell division through KRAS. Somatic BRAF mutations are found in 15% of colorectal cancers (CRC) and 45% of papillary thyroid cancers, with V600E being the most common mutation.

EGFR Sequencing Test
In NSCLC cases unresponsive to treatment, testing for EGFR gene mutations is crucial for guiding therapy. The EGFR gene is located on chromosome 7p12, consisting of 28 exons. Somatic mutations commonly occur in exons 18–24 (tyrosine kinase domain), most frequently in exon 19 (46–50%), exon 21 (40–42%), exon 20 (6–7%), exon 18 (4–6%), and rarely exon 22.

KRAS Mutations
KRAS is the most common gene mutation tested routinely in colon cancer patients. KRAS mutations cause resistance to anti-EGFR therapies in 30–40% of colorectal cancers, 10–30% of NSCLC, 90% of pancreatic cancers, and 5% of head and neck tumors.

TP53 Gene Sequencing Test
TP53 mutations are associated with breast, soft tissue, and bone cancers. TP53-related cancer predisposition is characterized by two autosomal dominant forms: classic Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome, presenting with soft tissue sarcoma, osteosarcoma, premenopausal breast cancer, brain tumors, and adrenocortical carcinoma.

RET Mutation Analysis Test
Multiple endocrine neoplasia type 2 (MEN2) includes MEN2A, FMTC, and MEN2B, all associated with high medullary thyroid cancer risk. MEN2A and MEN2B also carry increased pheochromocytoma risk. RET gene mutations are identified in 98% of MEN2A and MEN2B cases and 95% of FMTC cases. Our laboratory performs full-gene DNA sequencing of RET.

MSI (Microsatellite Instability)
MSI is a genetic pathway responsible for about 15% of sporadic colorectal cancers, caused by defects in the DNA mismatch repair system. MSI leads to mutations in tumor suppressor genes, contributing to colorectal, endometrial, gastric, and other malignancies. MSI is most commonly observed in proximal colon cancers and can be detected via PCR.

NTRK
Fusions involving NTRK1, NTRK2, or NTRK3 (coding for TRKA, TRKB, and TRKC neurotrophin receptors) act as oncogenic drivers in various adult and pediatric tumors. They can be detected via tumor DNA/RNA sequencing or cell-free plasma DNA profiling. TRK inhibitor therapy (Larotrectinib or Entrectinib) achieves high response rates (>75%) regardless of tumor histology. Resistance may develop through mutations in the NTRK kinase domain.

PD-L1
PD-L1 suppresses T-cell activation, promoting tumor progression. Overexpression in lung, stomach, liver, kidney, esophagus, pancreas, ovarian, bladder, and other cancers is linked to poorer outcomes, though breast cancer may show better prognosis. PD-L1 levels can guide immunotherapy selection, with PD-L1 positive tumors showing 2–3 times higher objective response to immune checkpoint inhibitors.

ABL1 Sequencing Test (Imatinib Resistance)
A BCR-ABL1 fusion arises from a translocation between the 5’ region of ABL1 on 9q34 and the 3’ region of BCR on 22q11. The resulting chimeric gene produces a p210 fusion protein with elevated tyrosine kinase activity, influencing therapy resistance.