molecular pathology

MLH1 promoter methylation

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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How to read a pathology report

A pathology report is a medical document created by a pathologist, who is a doctor specializing in diagnosing diseases through the examination of tissues, cells, and body fluids. This report details the findings from a specimen taken from your body and analyzed under a microscope or tested in a laboratory. The information in your pathology report …
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What is a tumor suppressor gene?

A tumor suppressor gene is a type of gene that helps protect the body from cancer. These genes normally control how cells grow, divide, and repair themselves. When working correctly, tumor suppressor genes act like brakes that slow down cell division, fix DNA damage, or cause unhealthy cells to die before they can become cancer. …
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What is a translocation?

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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Fusion

In a molecular pathology report, the word fusion refers to a specific genetic change in which two different genes that are normally separate join together. This joining creates a new, hybrid gene that produces an abnormal protein. These fusion events happen inside the cancer cells and are not something a person is born with. Because …
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