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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If you have been diagnosed with cancer, you have probably come across the word “biomarker” — in your pathology report, in conversations with your oncologist, or in articles about your cancer type. It is one of the most important words in modern cancer care, and understanding what it means will help you make sense of …
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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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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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Molecular testing is a type of laboratory testing that searches for specific changes in the genetic material (DNA or RNA) or proteins inside your cells. These changes can help doctors better understand the cause of a disease, how it might behave, and which treatments are most likely to be effective. Molecular testing is often performed …
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The DPYD gene provides the instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD). This enzyme plays an important role in the body’s ability to break down and eliminate certain chemotherapy drugs, especially medications used to treat cancer such as 5-fluorouracil (5-FU) and capecitabine. What does the DPYD gene do? The DPD enzyme made by …
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PMS2 is a gene that produces a protein involved in repairing mistakes in a cell’s DNA. It is one of four key mismatch repair (MMR) proteins — along with MLH1, MSH2, and MSH6 — that work together to find and fix small errors that occur when DNA is copied during cell division. PMS2 and MLH1 …
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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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A karyotype is a laboratory test that looks at a person’s chromosomes. Chromosomes are long, organized structures made of DNA, which carry the genetic instructions that tell your body how to grow and function. In a karyotype test, the chromosomes are stained with a special dye and examined under a microscope. This allows doctors to …
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