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Should we consider introducing systematic screening for Lynch Syndrome?

Frayling, Ian and Ward, R. 2014. Should we consider introducing systematic screening for Lynch Syndrome? Cancer Forum 38 (3) , pp. 229-232.

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Lynch Syndrome is characterised by the development of colorectal, endometrial and other cancers, often at a young age. It is caused by constitutional mutations of DNA mismatch repair genes and cancers that arise in this setting are mismatch repair deficient, as demonstrated by loss of the relevant mismatch repair protein and microsatellite instability. In theory, universal screening of all index colorectal cancers for mismatch repair deficient should identify individuals who are at higher than population risk of carrying a constitutional mutation in the mismatch repair genes. A health economic evaluation in the UK found that this type of screening strategy applied to individuals under the age of 51 years was highly cost effective. In Australia, some centres routinely test all colorectal cancer for mismatch repair deficient, however there is currently no systematic national approach to screening. Given the cost effectiveness of universal screening is dependent on uptake of constitutional testing by the index case and their relatives, we suggest that research into the determinants and barriers to uptake of constitutional testing is a high priority. Further, given that the health care context can influence the assessment of cost-effectiveness, we propose that the UK economic evaluation also needs to be undertaken in an Australian context.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Cancer Council Australia and the Clinical Oncology Society of Australia
ISSN: 0311-306X
Date of First Compliant Deposit: 30 March 2016
Last Modified: 20 Oct 2019 11:17

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