Lynch syndrome is an autosomal-dominant hereditary cancer syndrome.
Mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are implicated in the pathogenesis of the syndrome through microsatellite instability, and a rapid adenoma–carcinoma sequence.
Dr Wendy Ho and colleagues from California, USA explore an approach to Lynch syndrome for the gastroenterologist.
|Universal genetic testing of colorectal cancers has gained popularity|
|Digestive Diseases & Sciences|
The team report that the primary methodologies for diagnosis include clinical criteria, computational models, and genetic testing.
The researchers note that universal genetic testing of colorectal cancers has gained popularity as a method to identify high-risk individuals and to offer appropriate cancer surveillance, psychological reassurance, and family planning.
Management includes short-interval surveillance with colonoscopy in those without colorectal cancer and colectomy for those with cancer.
Dr Ho's team concludes, "Long-term chemoprevention with aspirin may improve mortality."