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 …
Read More »
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 …
Read More »
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 …
Read More »
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 …
Read More »
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, …
Read More »
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 …
Read More »
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 …
Read More »
KRAS and NRAS are two of the most commonly tested genes in colorectal cancer. When either gene carries a mutation — a change that causes it to malfunction — the result has direct consequences for your treatment plan. Most importantly, KRAS and NRAS mutations predict that a class of targeted drugs called anti-EGFR therapy will …
Read More »
MMR-deficient, often written as dMMR, means that one or more of the proteins responsible for repairing mistakes in a cell’s DNA are missing or not working properly. When these repair proteins are lost, errors in DNA can accumulate over time, contributing to the development of cancer. Finding dMMR in a tumour has important implications for …
Read More »
Mismatch repair (MMR) and microsatellite instability (MSI) testing are among the most important biomarker tests performed on colorectal cancers. Every colorectal cancer — whether found on a biopsy or in a surgical specimen — should be tested for this biomarker. The results tell your doctor whether your cancer’s DNA repair system is working normally or …
Read More »
