Lynch Syndrome (LS), also known as Hereditary non-polyposis colorectal cancer (HNPCC) is a familial cancer syndrome; affected individuals have disease-associated mutations in one of a number of key genes involved in normal DNA repair processes (most commonly the MLH1, MSH2 and MSH6 genes). This results in a significantly increased risk of developing certain forms of cancer, notably colorectal (bowel) cancer but also endometrial and ovarian cancers and a number of others.
Identifying LS has important health benefits for the patients – allowing appropriate close monitoring or preventative treatments for different forms of cancer as well as recurrences of colorectal cancer; for example, removal of the womb or ovaries in women. Moreover, cascade testing of close relatives can also identify family members at high risk of the same cancers who would benefit from risk reduction strategies.
The researchers compared the alternative approaches of microsatellite instability (MSI) testing or immunohistochemistry (IHC), including economic data. Analysis of the available evidence showed that testing for LS newly-diagnosed colorectal cancer patients aged under 50 is indeed cost-effective. No specific method emerged as a clear ‘gold-standard’ for testing but the most cost-effective approach was found to be the use of MSI and BRAF mutation testing; cascade testing of at-risk family members was recommended for all strategies.
Dr Ian Frayling of Cardiff University's Institute of Medical Genetics, one of the researchers, told the BBC: "Now the cost of genetic testing is coming down there is a good argument for younger bowel cancer patients to be screened. It will save lives and save money for the NHS".
Looking further ahead, he and colleagues recommended new research into the cost-effectiveness of testing for LS in younger patients with newly diagnosed endometrial or ovarian cancer, and of the value of treatment with aspirin to reduce the risk of future cancers.
ver historia personal en: www.cerasale.com.ar [dado de baja por la Cancillería Argentina por temas políticos, propio de la censura que rige en nuestro medio]//
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