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

Erika K S M Leenders; Harm Westdorp; Roger J Brüggemann; Jan Loeffen; Christian Kratz; John Burn; Nicoline Hoogerbrugge; Marjolijn C J Jongmans

doi:10.1038/s41431-018-0197-0

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

Erika K S M Leenders, Harm Westdorp, Roger J Brüggemann, Jan Loeffen, Christian Kratz, John Burn, Nicoline Hoogerbrugge, Marjolijn C J Jongmans^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1417-1423
Number of pages	7
Journal	European Journal of Human Genetics
Volume	26
Issue number	10
Early online date	14 Jun 2018
DOIs	https://doi.org/10.1038/s41431-018-0197-0
Publication status	Published - 1 Oct 2018

Keywords

Journal Article
Review
Colorectal Neoplasms/complications
Humans
Aspirin/therapeutic use
Neoplastic Syndromes, Hereditary/complications
Brain Neoplasms/complications
Mismatch Repair Endonuclease PMS2/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/complications
DNA-Binding Proteins/genetics
MutS Homolog 2 Protein/genetics
Germ-Line Mutation/genetics
Neoplasms/complications
MutL Protein Homolog 1/genetics
Child

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title = "Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)",

abstract = "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.",

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author = "Leenders, {Erika K S M} and Harm Westdorp and Br{\"u}ggemann, {Roger J} and Jan Loeffen and Christian Kratz and John Burn and Nicoline Hoogerbrugge and Jongmans, {Marjolijn C J}",

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AU - Leenders, Erika K S M

AU - Westdorp, Harm

AU - Brüggemann, Roger J

AU - Loeffen, Jan

AU - Kratz, Christian

AU - Burn, John

AU - Hoogerbrugge, Nicoline

AU - Jongmans, Marjolijn C J

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AB - 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.

KW - Journal Article

KW - Review

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KW - Aspirin/therapeutic use

KW - Neoplastic Syndromes, Hereditary/complications

KW - Brain Neoplasms/complications

KW - Mismatch Repair Endonuclease PMS2/genetics

KW - Colorectal Neoplasms, Hereditary Nonpolyposis/complications

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KW - MutS Homolog 2 Protein/genetics

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KW - Neoplasms/complications

KW - MutL Protein Homolog 1/genetics

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

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