Genetic testing is becoming an increasingly common part of cancer care. However, it exists in two very different forms that are often confused — and this confusion is important because the results can have very different implications. One type of genetic test looks at the DNA of the cancer cells themselves, looking for changes that …
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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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MYC is a gene that provides instructions for making the MYC protein, which plays a major role in controlling how cells grow, divide, and use energy. MYC is considered a biomarker. A biomarker is a measurable feature in a tumour, such as a gene change or protein abnormality, that helps doctors understand how a cancer …
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BCL6 is a gene that provides instructions for making the BCL6 protein, which acts as a transcription factor. A transcription factor is a protein that controls which genes inside a cell are turned on or off. BCL6 is considered a biomarker. A biomarker is a measurable feature in a tumour, such as a gene change …
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RET is a gene that provides instructions for making a protein involved in cell growth and development. The RET protein acts as a receptor on the surface of specific cells, where it receives signals that help control how cells grow, divide, and survive. RET is considered a biomarker. A biomarker is a measurable feature in …
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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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