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Studying inherited skin cancer risk in affected families

  • Researcher: Dr Stuart MacGregor
  • Institution: QIMR Berghofer Medical Research Institute, Brisbane, Australia
  • Award Amount: £176,732 for 2 years from 1st January 2016
  • Cancer Type: Skin Cancer
Studying inherited skin cancer risk in affected families
Dr MacGregor told us “Melanoma skin cancer is the most dangerous form of skin cancer. A person’s genes, and more importantly mutations in these genes, influence their risk of getting melanoma. An inherited risk is one that can be passed on from their parents and can arise either from a single serious mutation in a critical gene or from the accumulation of lots of mutations in multiple lower risk genes (termed polygenic risk). We will assess the level of polygenic risk in families that have multiple members all with melanoma skin cancer. In those families with a low polygenic risk we will use sequencing, specifically exome sequencing, to search for serious mutations in critical genes."

He continued “We are excited to be able to conduct this work because it will provide certainty to some high risk families. In some families, we expect to show that the contribution of common polygenic risk is low or no different to the normal population. This will enable us to focus efforts on identifying rare variants of substantial clinical relevance to specific family members who inherit a high risk mutation. In such scenarios, individual members will be at a different risk, depending on the specific mutations they inherit.

In other families the observed familial clustering may be completely explained by multiple genes of small effect, reinforcing for the affected families that all members are at high risk. Since such families are unlikely to also carry rare mutations, family members need not undergo additional genetic testing. Knowing whether someone is at a high risk of developing melanoma, means they can take precautions to lower their risk and get monitored so it is caught early if it does develop.”
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