Article
Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.
Cancer letters - 10 Sept 2017
Westdorp Harm, Kolders Sigrid, Hoogerbrugge Nicoline, de Vries I Jolanda M, Jongmans Marjolijn C J, Schreibelt Gerty
Abstract excerpt
Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at adult age. Less well known, is the constitutional mismatch repair deficiency (CMMRD) syndrome caused by biallelic germline mutations in MMR genes. This syndrome is characterized by the development of childhood cancer. Patients with CMMRD are at...
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