Scientists identify new genetic fault believed to raise breast cancer risk

  • NIHR
  • 6 Aug 2018

  • curated by Pavankumar Kamat
  • UK Medical News
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Scientists have identified a new genetic change believed to switch off the BRCA1 gene, thereby increasing the risk for breast and ovarian cancer in families carrying the fault. The study supported by the National Institute for Health Research (NIHR) Manchester Biomedical Research Centre, found the genetic fault in 2 families from Manchester with a history of early-onset breast and ovarian cancers.

The researchers performed DNA sequencing for 49 families with a history of early-onset breast and ovarian cancers and identified the new fault in 2 of the families. The fault occurs just at the beginning of the BRCA1 genetic code in a region of the DNA, which is not typically tested by laboratories. The fault switches off the BRCA1 gene through epigenetic silencing.

Findings such as these could help understand the various changes that increase the susceptibility of families to cancer and can help family members know if they are a carrier of an inherited fault. According to Professor Gareth Evans from the NIHR Manchester Biomedical Research Centre, "Incorporating this additional testing into our existing genetic testing could allow us to identify more women who are at greater risk of developing breast and ovarian cancer and look at preventative treatment and also rule out those at lower risk.”

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