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Risk profiling: Familial colorectal cancer

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journal contribution
posted on 01.10.2020 by AUNG KO WIN, DRISS AIT OUAKRIM, MARK JENKINS

Family history of colorectal cancer is a well-established and consistently strong risk factor for this disease. However, simply counting the number of affected relatives is an imprecise measure of colorectal cancer risk. We have reviewed current colorectal cancer screening guidelines from Australia, New Zealand, Canada, the US, and UK, and found that all, including the Australian National Health and Medical Research Council 2005 guidelines, assign people to risk categories largely based on age and rudimentary metrics of family history and recommend screening regimens. We claim that these guidelines are not sufficiently precise for a large proportion of people within these categories, as there is a substantial variation in colorectal cancer risk, even for people with the same family history, and even for people with a predisposing mutation in the same gene, or set of genes. If there was a tool to estimate individual colorectal cancer risk based on all known risk factors for the disease - personal and family history of cancer (including ages, ages at diagnoses, and genetic relationships across multiple generations), all known genetic factors (rare high-risk genetic mutations as well as common genetic variants), environmental factors and personal characteristics - then accurate prediction of future risk of colorectal cancer (personalised risk) may be possible. The development and utility of such a comprehensive risk prediction tool is important for appropriate personalised clinical management, including targeted colorectal cancer screening.

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