NTRK fusions are chromosomal rearrangements that fuse one of three genes — NTRK1, NTRK2, or NTRK3 — to a partner gene, producing an abnormal fusion protein that continuously drives cancer cell growth. The NTRK genes normally encode a family of receptor proteins called tropomyosin receptor kinases (TRK A, B, and C), which play important roles …
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ROS1 is a gene that encodes a receptor protein involved in signalling pathways that regulate cell growth and survival. In healthy adult lung tissue, ROS1 is essentially inactive. In approximately 1–2% of non-small cell lung cancers, a chromosomal rearrangement fuses the ROS1 gene to a partner gene, creating an abnormal fusion protein that is permanently …
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KRAS is one of the most commonly mutated genes in human cancer. In the lung, mutations in the KRAS gene are found in approximately 25–30% of non-small cell lung cancers, making it the single most frequently altered driver gene in this disease, more common than EGFR mutations or ALK rearrangements. KRAS encodes a protein that …
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ALK (anaplastic lymphoma kinase) is a protein that plays a role in normal cell development. In healthy adult lung tissue, the ALK gene is essentially switched off. In approximately 3–7% of non-small cell lung cancers, a chromosomal rearrangement — a structural change in which a segment of DNA breaks and fuses to a different gene …
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BRCA1 and BRCA2 are genes that normally protect cells from becoming cancerous. Their job is to repair damaged DNA and keep cell division under control. When one of these genes carries a harmful mutation — a change that prevents the gene from working properly — that protective function is lost, and the risk of developing …
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TERT is a gene that provides instructions for making part of an enzyme called telomerase. Telomerase helps maintain structures called telomeres, which protect the ends of chromosomes. TERT is considered a biomarker. A biomarker is a measurable feature in a tumour, such as a gene change, that helps doctors understand how a cancer behaves and …
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MLH1 promoter methylation is a change that affects the way the MLH1 gene is switched on and off. The MLH1 gene provides instructions for making a protein that repairs mistakes in DNA. When the promoter region of the gene (the “on–off switch”) becomes abnormally methylated, the MLH1 gene is turned off. As a result, the …
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A pathology report is a medical document written by a pathologist. A pathologist is a medical doctor who specializes in diagnosing disease by examining tissues, cells, and body fluids. Your pathology report is created after a sample from your body, such as a biopsy, surgical specimen, or fluid sample, is examined in the laboratory. This …
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A tumor suppressor gene is a type of gene that helps protect the body from cancer. These genes normally control how cells grow, divide, and repair themselves. When working correctly, tumor suppressor genes act like brakes that slow down cell division, fix DNA damage, or cause unhealthy cells to die before they can become cancer. …
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A translocation is a type of genetic change where a piece of one chromosome breaks off and attaches to a different chromosome. Chromosomes are structures inside your cells that carry DNA, the instructions your body uses to grow, repair itself, and function properly. When pieces of chromosomes switch places, they can create new combinations of …
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