Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
Identifieur interne : 000F94 ( Main/Exploration ); précédent : 000F93; suivant : 000F95Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
Auteurs : Uri Tabori [Canada] ; Jordan R. Hansford [Australie] ; Maria Isabel Achatz [États-Unis] ; Christian P. Kratz [Allemagne] ; Sharon E. Plon [États-Unis] ; Thierry Frebourg [France] ; Laurence Brugières [France]Source :
- Clinical cancer research : an official journal of the American Association for Cancer Research [ 1078-0432 ] ; 2017.
Abstract
Replication proofreading is crucial to avoid mutation accumulation in dividing cells. In humans, proofreading and replication repair is maintained by the exonuclease domains of DNA polymerases and the mismatch repair system. Individuals harboring germline mutations in genes involved in this process are at increased risk of early cancers from multiple organs. Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1, and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency or constitutional mismatch repair deficiency syndrome (CMMRD). Data gathered in the last decade allow us to better define the clinical manifestations, tumor spectrum, and diagnostic algorithms for CMMRD. In this article, we summarize this information and present a comprehensive consensus surveillance protocol for these individuals. Ongoing research will allow for further definition of replication repair-deficient cancer syndromes, assessing the cost-effectiveness of such surveillance protocols and potential therapeutic interventions for these children and families. Clin Cancer Res; 23(11); e32-e37. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.
DOI: 10.1158/1078-0432.CCR-17-0574
PubMed: 28572265
Affiliations:
- Allemagne, Australie, Canada, France, États-Unis
- Basse-Saxe, Haute-Normandie, Maryland, Ontario, Région Normandie, Texas, Victoria (État)
- Hanovre, Melbourne, Rouen, Toronto
- Université de Melbourne, Université de Toronto
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In humans, proofreading and replication repair is maintained by the exonuclease domains of DNA polymerases and the mismatch repair system. Individuals harboring germline mutations in genes involved in this process are at increased risk of early cancers from multiple organs. Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1, and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency or constitutional mismatch repair deficiency syndrome (CMMRD). Data gathered in the last decade allow us to better define the clinical manifestations, tumor spectrum, and diagnostic algorithms for CMMRD. In this article, we summarize this information and present a comprehensive consensus surveillance protocol for these individuals. Ongoing research will allow for further definition of replication repair-deficient cancer syndromes, assessing the cost-effectiveness of such surveillance protocols and potential therapeutic interventions for these children and families. Clin Cancer Res; 23(11); e32-e37. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>États-Unis</li></country><region><li>Basse-Saxe</li><li>Haute-Normandie</li><li>Maryland</li><li>Ontario</li><li>Région Normandie</li><li>Texas</li><li>Victoria (État)</li></region><settlement><li>Hanovre</li><li>Melbourne</li><li>Rouen</li><li>Toronto</li></settlement><orgName><li>Université de Melbourne</li><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Tabori, Uri" sort="Tabori, Uri" uniqKey="Tabori U" first="Uri" last="Tabori">Uri Tabori</name></region></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Hansford, Jordan R" sort="Hansford, Jordan R" uniqKey="Hansford J" first="Jordan R" last="Hansford">Jordan R. 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Kratz</name></region></country><country name="France"><region name="Région Normandie"><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name></region><name sortKey="Brugieres, Laurence" sort="Brugieres, Laurence" uniqKey="Brugieres L" first="Laurence" last="Brugières">Laurence Brugières</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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