If your blood test or bone marrow report mentions BCR::ABL1 or the Philadelphia chromosome, these refer to the same genetic change — a mistake in the DNA of a blood-forming cell that causes it to produce a new, abnormal protein. That protein drives the uncontrolled growth of white blood cells seen in chronic myeloid leukemia …
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If your pathology report or molecular test results mention a RAS mutation — most commonly NRAS, HRAS, or KRAS — this refers to a change in one of three closely related genes that help control how thyroid cells grow and divide. RAS mutations are among the most common molecular findings in thyroid cancer and in …
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If your pathology report or molecular test results mention a BRAF mutation — most commonly written as BRAF V600E — this refers to a specific change in the BRAF gene found in a large proportion of thyroid cancers. BRAF testing is now a routine part of the molecular workup for thyroid cancer, and the result …
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If your pathology report or genetic test results mention BRCA1 or BRCA2, these refer to two genes that play a critical role in repairing damaged DNA. In ovarian cancer, BRCA testing is one of the most important molecular tests performed — not just because a mutation in either gene helps predict how the cancer will …
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If your pathology or molecular report mentions p53, it refers to the result of a special stain or genetic test that looks at a protein — and the gene that makes it — that plays a central role in how cells control their own growth and repair their DNA. In endometrial cancer, testing for p53 …
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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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A POLE mutation is one of the most important findings a pathologist can report in an endometrial cancer — not because it signals danger, but because it signals the opposite. Endometrial cancers with a pathogenic POLE mutation belong to the molecular group with the best prognosis of all four endometrial cancer subtypes. These cancers rarely …
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Tumour mutational burden — usually abbreviated as TMB — is a measurement of how many genetic mutations are present in a tumour. The more mutations a cancer carries, the more it tends to look different from normal cells to the immune system. Because immunotherapy drugs work by helping the immune system find and attack cancer, …
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HER2 — also known as ERBB2 — is a gene that drives the growth of cancer cells when it is overactive. Although HER2 amplification is best known in breast and gastric cancers, it also occurs in colorectal cancer and, until recently, was a finding without a dedicated treatment. That has changed substantially. Two HER2-targeted therapies …
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A BRAF mutation is found in approximately 8 to 12% of colorectal cancers and identifies a biologically distinct subtype of the disease with its own treatment implications. The great majority of BRAF mutations in colorectal cancer are a specific change called V600E. This mutation carries two important clinical consequences: it predicts that standard anti-EGFR targeted …
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