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Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)

Lookup NU author(s): Professor Sir John BurnORCiD


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© 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.

Publication metadata

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

Year: 2018

Volume: 26

Issue: 10

Pages: 1417-1423

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


DOI: 10.1038/s41431-018-0197-0


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