High-risk familial syndromes
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2017
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Clinical practice guidelines for the prevention, early detection and management of colorectal cancer
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Cancer Council Australia
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Melbourne School of Population and Global Health
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Leggett, B., Poplawski, N., Rosty, C., Norton, I., Wright, C., Win, A., Macrae, F. & Cancer Council Australia Colorectal Cancer Guidelines Working Party, (2017). High-risk familial syndromes. Clinical practice guidelines for the prevention, early detection and management of colorectal cancer, Clinical practice guidelines for the prevention, early detection and management of colorectal cancer, (2017), Cancer Council Australia.
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Abstract
The optimal management of individuals with, or at risk of, a familial colorectal cancer syndrome is dependent upon determining which syndrome is present. The provisional diagnosis should be based on well verified clinical and pathological data concerning the index patient and other affected members of the family. The diagnosis may ultimately be confirmed by the demonstration of a causative germline mutation. Genetic testing is highly specific for the syndromes in question, and, for most genes, highly sensitive. There remains a small group of patients and families meeting phenotypic diagnostic criteria for the various syndromes where a mutation in the relevant gene is not identified. This could be because of cryptic mutations difficult to uncover, or because another gene, yet to be discovered, is responsible. This means that phenotypic diagnoses need to be respected for management purposes even if a genotype has not been characterised.
Care is focused on the family as well as individual patients. It aims to reduce cancer morbidity and mortality by offering information about the risk of colorectal and other cancers and evidenced-based interventions to reduce this risk. There is evidence that participation in regular surveillance programs reduces cancer mortality in individuals carrying mutations causing familial adenomatous polyposis and Lynch syndrome. Screening has not been shown to be beneficial for other rarer familial colorectal cancer syndromes. This is likely a result of small numbers in studied cohorts.