TY - JOUR
T1 - Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
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.
N1 - Publisher Copyright:
© 2018, European Society of Human Genetics.
PY - 2018/10/1
Y1 - 2018/10/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85048566032&partnerID=8YFLogxK
U2 - 10.1038/s41431-018-0197-0
DO - 10.1038/s41431-018-0197-0
M3 - Review article
C2 - 29904176
AN - SCOPUS:85048566032
SN - 1018-4813
VL - 26
SP - 1417
EP - 1423
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 10
ER -