Article
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.
Cancer research communications - 1 Mar 2023
Kansikas Minttu, Vähätalo Laura, Kantelinen Jukka, Kasela Mariann, Putula Jaana, Døhlen Anni, Paloviita Pauliina, Kärkkäinen Emmi, Lahti Niklas, Arnez Philippe, Kilpinen Sami, Alcala-Repo Beatriz, Pylvänäinen Kirsi, Pöyhönen Minna, Peltomäki Päivi, Järvinen Heikki J, Seppälä Toni T, Renkonen-Sinisalo Laura, Lepistö Anna, Mecklin Jukka-Pekka, Nyström Minna
Abstract excerpt
Lynch syndrome (LS) is the most common hereditary cancer syndrome. Early diagnosis improves prognosis and reduces health care costs, through existing cancer surveillance methods. The problem is finding and diagnosing the cancer predisposing genetic condition. The current workup involves a complex array of tests that combines family cancer history and clinical phenotypes with tumor characteristics and sequencing...
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