A somatic mutation is a change in a gene that occurs during a person’s lifetime in a specific group of cells. These mutations are not present at birth and are not passed down from parents. Instead, they develop in cells as they grow and divide. Somatic mutations are common in many types of cancer because …
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Variant allele frequency (VAF) is a measurement used in the genetic testing of tumours. It describes how common a specific genetic change is within a tested tissue sample and is usually reported as a percentage. Tumours are often tested for genetic changes because these changes can explain why a cancer developed, how it may behave, …
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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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POLD1 is a gene that provides instructions for making a protein called DNA polymerase delta. This protein works together with other DNA polymerases, including POLE, to copy DNA when cells divide. Like POLE, POLD1 has a proofreading function that helps correct mistakes during DNA replication. This proofreading keeps the genetic code accurate and prevents harmful …
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POLE is a gene that provides instructions for making a protein called DNA polymerase epsilon. This protein is very important because it helps copy DNA when cells divide. It also has a special function called proofreading, which works like a spell-checker to make sure mistakes in DNA are fixed. When POLE is working normally, it …
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ctDNA (circulating tumor DNA) are small fragments of genetic material (DNA) released into the bloodstream by cancer cells. All cells in the body shed bits of DNA when they die, but ctDNA comes specifically from tumor cells. Because these DNA fragments carry the same genetic changes as the tumor, they can be analyzed to learn …
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A liquid biopsy is a medical test that detects signs of disease, such as cancer, in a sample of body fluid—most often blood. Unlike a traditional biopsy, which involves removing a small tissue sample with a needle or during surgery, a liquid biopsy is minimally invasive and can be done with a simple blood draw. …
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Polymerase chain reaction (commonly called PCR) is a laboratory technique used to produce millions of copies of a specific DNA segment. This process allows doctors to detect even very small amounts of genetic material in a sample. PCR is widely used in medicine, including in pathology, to diagnose infections, identify cancer-related mutations, and help guide …
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JAK2 (Janus kinase 2) is a gene that provides instructions for making a protein involved in how cells grow, divide, and respond to signals from the immune system. JAK2 is part of a family of related genes that also includes JAK1, JAK3, and TYK2. These genes all produce proteins that help cells communicate using a …
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In a molecular pathology report, the word rearrangement refers to a change in the DNA structure within a cell. DNA is usually organized into long strands called chromosomes, each containing many genes. A rearrangement happens when a piece of a chromosome breaks off and attaches somewhere else, either on the same chromosome or another chromosome. …
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