Two human genes, BRCA1 and BRCA2, have long been linked to cancer. Specific mutations in these genes increase the risk of female breast and ovarian cancer, as well as other cancer types. A person with an individual, or family history that suggests the presence of a BRCA mutation may choose to be genetically tested to see if they are at risk.
Many people who are tested, and discover they have a BRCA mutation, choose to take preventative measures to avoid developing cancer, including hysterectomy or mastectomy. Researchers led by QIMR Berghofer Medical Research Institute in Australia believe more accurate testing may prevent unnecessary surgeries.
The team have discovered 94 genetic variations that could increase a person’s cancer risk, after analyzing over 20,000 variants of the BRCA1 and BRCA2 cancer genes. They were also able to identify 400 gene variants that were harmless. This new knowledge will allow patients with BRCA gene variations, and their clinicians, to make more informed decisions about if surgery is actually needed.
It is hoped that this more accurate genetic testing will improve the standard of diagnosis across Australian cancer clinics, and one day across the globe.
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