Article
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Oncology reports - 1 Nov 2016
Lagerstedt-Robinson Kristina, Rohlin Anna, Aravidis Christos, Melin Beatrice, Nordling Margareta, Stenmark-Askmalm Marie, Lindblom Annika, Nilbert Mef
Abstract excerpt
Lynch syndrome caused by constitutional mismatch‑repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled the mutation spectrum...
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