Medical genetics

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cells and pass genetic traits to offspring. Therefore A modern working definition of a gene is “a locatable region of genomic sequence; corresponding to a unit of inheritance, which is associate with regulatory regions, transcribed regions; and or other functional sequence regions “.

Heredity in a living organism

In common usage, the term gene often refers to what is knows more accurately as an allele. cancer gene fusions, which result from the merging of two previously separate genes, researchers at the Wellcome Sanger Institute, EMBL-EBI, Open Targets, GSK and their collaborators have used CRISPR to uncover which gene fusions are critical for the growth of cancer cells. The team also identified a new gene fusion that presents a novel drug target for multiple cancers; including brain and ovarian cancers.

The results, published today (16 May) in Nature Communications, give more certainty for the use of specific gene fusions to diagnose and guide the treatment of patients. Researchers suggest existing drugs repurpose to treat some people with pancreatic; breast and lung cancers, based on the gene fusions found in their tumours.

The treatment of patients

Gene fusions, caused by the abnormal joining of two otherwise different genes; play an important role in the development of cancer. They are currently used as diagnostic tools to predict how particular cancer patients will respond to drugs, as well as prognostics, to estimate the outcome for a patient given the best possible care. They are also the targets of some of the latest targeted treatments for cancer.

Researchers have identified around 20,000 gene fusions so far; however their exact function and role in developing cancer remains poorly understood. Discriminating between fusions that have a role in cancer survival and those that do not has important clinical implications.

Treat cancer patients

The team tested the cell lines against more than 350 anti-cancer drugs to see which existing drugs could be repurposed to potentially cc with gene fusions, and employed CRISPR as a tool to discover which key gene fusions are critical for cancer cell survival.

The team find that 90% of gene fusions do not play an essential role in cancer. These results should be considered when inferring causes of cancer from the genome sequence of patients’ tumours. Dr. Gabriele Picco, co-first author from the Wellcome Sanger Institute, said: “The majority of gene fusions are not essential for the survival of cancer cells. As genome sequencing patients’ tumours becomes more common, those interpreting the data must be careful when considering whether a particular gene fusion is driving the cancer.”