Background: As more genome sequencing is done in healthcare, it is essential that accurate information is provided about how genetic changes relate to cancer susceptibility. Knowledge about these gene changes can affect how a patient is cared for, provide risk information about other future cancers, as well as risk information for their family. Knowing about an increased risk for cancer means people can have access to enhanced screening, risk-reducing surgery or access to drugs as appropriate.
Project Summary: The inherited cancer predisposition domain will analyse genome data from families and individuals diagnosed with cancer. They will focus on looking at changes in genes that can be passed down through families and increase the risk of cancer. BRCA1 is one example of a well-recognized cancer risk gene, recently in the spotlight through public discussions lead by Angelina Jolie.
Aims: By studying cancer risk genes, the researchers hope to identify the DNA changes in individual participants which have been passed down through the family and caused cancer. Any significant findings will be fed back to the clinicians looking after those patients, as they may be important for healthcare.
They will also look across multiple patients and families to hunt for new cancer risk genes. Finally, they aim to better understand the cancer risks associated with known cancer susceptibility genes.
Below are the current subdomains for this domain. You can find the full details of the research proposed by this domain in the Inherited cancer GeCIP detailed research plan.
|Clinical phenotyping, eligibility and recruitment|
|Yvonne Wallis||Clinical Interpretation|
|Large-scale WGS analysis|
|Michael Sternburg||Computational Prediction|
|Anthony Carr||Functional analyses|
|Antonis Antoniou||Risk and familial analyses|
|Ethical, Legal, Social, Economic
|Kate Tatton Brown|
|Education and Training|