Lookup NU author(s): Professor Sir John Burn
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2018 European Society of Human Genetics Constitutional MisMatch Repair Deficiency (CMMRD) is caused by homozygous or compound heterozygous germline variants in one of the mismatch repair (MMR) genes (MSH2, MSH6, PMS2, MLH1). This syndrome results in early onset colorectal cancer, leukemia and lymphoma, brain tumors and other malignancies. Children with CMMRD are at high risk of developing multiple cancers and cancer surveillance does not guarantee detection of cancer at a curable stage. The development of a preventive treatment strategy would be a major step forward. Long-term daily use of acetylsalicylic acid (ASA) has been shown to reduce cancer risk in individuals with Lynch syndrome (LS). LS is caused by heterozygous germline variants of MSH2, MSH6, PMS2 and MLH1 and characterized by an increased risk of developing colorectal and endometrial cancer at adult age. Here we discuss the potential use of ASA for cancer prevention in patients with CMMRD.
Author(s): Leenders EKSM, Westdorp H, Bruggemann RJ, Loeffen J, Kratz C, Burn J, Hoogerbrugge N, Jongmans MCJ
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Print publication date: 01/10/2018
Online publication date: 14/06/2018
Acceptance date: 22/05/2018
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
Altmetrics provided by Altmetric