Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
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....
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| Veröffentlicht in: | European journal of human genetics : EJHG 2018-10, Vol.26 (10), p.1417-1423 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Leenders, Erika K S M Westdorp, Harm Brüggemann, Roger J Loeffen, Jan Kratz, Christian Burn, John Hoogerbrugge, Nicoline Jongmans, Marjolijn C J |
| description | 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. |
| doi_str_mv | 10.1038/s41431-018-0197-0 |
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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. 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Here we discuss the potential use of ASA for cancer prevention in patients with CMMRD.</description><subject>Acetylsalicylic acid</subject><subject>Aspirin</subject><subject>Brain cancer</subject><subject>Brain tumors</subject><subject>Cancer</subject><subject>Children</subject><subject>Colorectal cancer</subject><subject>Colorectal carcinoma</subject><subject>Developmental stages</subject><subject>Disease prevention</subject><subject>Endometrial cancer</subject><subject>Endometrium</subject><subject>Genetic disorders</subject><subject>Health risk assessment</subject><subject>Lymphoma</subject><subject>Mismatch repair</subject><subject>MLH1 protein</subject><subject>MSH2 protein</subject><subject>MSH6 protein</subject><subject>Review</subject><subject>Yeast</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNpdUU1LxDAUDKL4_QO8SMCLHqpJkybpRZD6CS6C6DkkaepGumlNWmX_vSmrokIeCcy8yXszABxgdIoREWeRYkpwhrBIVfIMrYFtTDnLCkrEenpPCBWYbIGdGF8RSiDHm2ArL0tEMWfbQFbKGxtgH-y79YPrPNRLqGLvgvMwHTN3bR2shx9umMOq83FwwzgRVQtnLi7UYObw0fbKBXhpG2ec9WYJj6vZ7PHyZA9sNKqNdv_r3gXP11dP1W12_3BzV13cZ4bmfMgK3WhljKZK56zmhNPc2MYwoxBjZa0MKRgiNWtowUShlSgKy5FA3OoE65LsgvOVbj_qha1N2iWoVvbBLVRYyk45-Rfxbi5funfJMBEc4SRw_CUQurfRxkEuXDS2bZW33RhljgpGSs7F9NfRP-prN4bkR2Lh5Gtyn5LEwiuWCV2MwTY_w2Akp_jkKj6ZQpJTfBKlnsPfW_x0fOdFPgH_55bl</recordid><startdate>20181001</startdate><enddate>20181001</enddate><creator>Leenders, Erika K S M</creator><creator>Westdorp, Harm</creator><creator>Brüggemann, Roger J</creator><creator>Loeffen, Jan</creator><creator>Kratz, Christian</creator><creator>Burn, John</creator><creator>Hoogerbrugge, Nicoline</creator><creator>Jongmans, Marjolijn C J</creator><general>Nature Publishing Group</general><general>Springer International Publishing</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20181001</creationdate><title>Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)</title><author>Leenders, Erika K S M ; 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| source | Springer Nature - Complete Springer Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Acetylsalicylic acid Aspirin Brain cancer Brain tumors Cancer Children Colorectal cancer Colorectal carcinoma Developmental stages Disease prevention Endometrial cancer Endometrium Genetic disorders Health risk assessment Lymphoma Mismatch repair MLH1 protein MSH2 protein MSH6 protein Review Yeast |
| title | Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD) |
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