Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Identifieur interne : 000479 ( Main/Exploration ); précédent : 000478; suivant : 000480Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Auteurs : Michael F. Walsh [États-Unis] ; Vivian Y. Chang [États-Unis] ; Wendy K. Kohlmann [États-Unis] ; Hamish S. Scott [Australie] ; Christopher Cunniff [États-Unis] ; Franck Bourdeaut [France] ; Jan J. Molenaar [Pays-Bas] ; Christopher C. Porter [Géorgie (pays)] ; John T. Sandlund [États-Unis] ; Sharon E. Plon [États-Unis] ; Lisa L. Wang [États-Unis] ; Sharon A. Savage [États-Unis]Source :
- Clinical cancer research : an official journal of the American Association for Cancer Research [ 1078-0432 ] ; 2017.
Abstract
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood. Although it is clear that the risk of cancer is increased, there are limited data defining the true incidence of cancer and almost no evidence-based approaches to cancer surveillance in patients with DNA repair disorders. This article is the product of the October 2016 AACR Childhood Cancer Predisposition Workshop, which brought together experts from around the world to discuss and develop cancer surveillance guidelines for children with cancer-prone disorders. Herein, we focus on the more common of the rare DNA repair disorders: ataxia telangiectasia, Bloom syndrome, Fanconi anemia, dyskeratosis congenita, Nijmegen breakage syndrome, Rothmund-Thomson syndrome, and Xeroderma pigmentosum. Dedicated syndrome registries and a combination of basic science and clinical research have led to important insights into the underlying biology of these disorders. Given the rarity of these disorders, it is recommended that centralized centers of excellence be involved directly or through consultation in caring for patients with heritable DNA repair syndromes. Clin Cancer Res; 23(11); e23-e31. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.
DOI: 10.1158/1078-0432.CCR-17-0465
PubMed: 28572264
Affiliations:
- Australie, France, Géorgie (pays), Pays-Bas, États-Unis
- Australie-Méridionale, Californie, Hollande-Septentrionale, Maryland, Tennessee, Texas, Utah, État de New York, Île-de-France
- Amsterdam, Paris
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Walsh</name><affiliation wicri:level="2"><nlm:affiliation>Memorial Sloan Kettering Cancer Center, New York, New York. walshm2@mskcc.org savagesh@mail.nih.gov.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Memorial Sloan Kettering Cancer Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Chang, Vivian Y" sort="Chang, Vivian Y" uniqKey="Chang V" first="Vivian Y" last="Chang">Vivian Y. Chang</name><affiliation wicri:level="2"><nlm:affiliation>University of California, Los Angeles, Los Angeles, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>University of California, Los Angeles, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Kohlmann, Wendy K" sort="Kohlmann, Wendy K" uniqKey="Kohlmann W" first="Wendy K" last="Kohlmann">Wendy K. Kohlmann</name><affiliation wicri:level="2"><nlm:affiliation>Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Huntsman Cancer Institute, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S" last="Scott">Hamish S. Scott</name><affiliation wicri:level="2"><nlm:affiliation>Department of Genetics and Molecular Pathology, Centre for Cancer Biology, Adelaide, South Australia.</nlm:affiliation><country>Australie</country><placeName><region type="state">Australie-Méridionale</region></placeName><wicri:cityArea>Department of Genetics and Molecular Pathology, Centre for Cancer Biology, Adelaide</wicri:cityArea></affiliation></author><author><name sortKey="Cunniff, Christopher" sort="Cunniff, Christopher" uniqKey="Cunniff C" first="Christopher" last="Cunniff">Christopher Cunniff</name><affiliation wicri:level="2"><nlm:affiliation>Weill Cornell Medical College, New York, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Weill Cornell Medical College, New York</wicri:cityArea></affiliation></author><author><name sortKey="Bourdeaut, Franck" sort="Bourdeaut, Franck" uniqKey="Bourdeaut F" first="Franck" last="Bourdeaut">Franck Bourdeaut</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie, Integrated Cancer Research Site, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Integrated Cancer Research Site, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Molenaar, Jan J" sort="Molenaar, Jan J" uniqKey="Molenaar J" first="Jan J" last="Molenaar">Jan J. Molenaar</name><affiliation wicri:level="3"><nlm:affiliation>Princess Máxima Center for Pediatric Oncology, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Princess Máxima Center for Pediatric Oncology, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Porter, Christopher C" sort="Porter, Christopher C" uniqKey="Porter C" first="Christopher C" last="Porter">Christopher C. Porter</name><affiliation wicri:level="1"><nlm:affiliation>Emory University, Atlanta, Georgia.</nlm:affiliation><country xml:lang="fr">Géorgie (pays)</country><wicri:regionArea>Emory University, Atlanta</wicri:regionArea><wicri:noRegion>Atlanta</wicri:noRegion></affiliation></author><author><name sortKey="Sandlund, John T" sort="Sandlund, John T" uniqKey="Sandlund J" first="John T" last="Sandlund">John T. Sandlund</name><affiliation wicri:level="2"><nlm:affiliation>St. Jude Children's Research Hospital, Memphis, Tennessee.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>St. Jude Children's Research Hospital, Memphis</wicri:cityArea></affiliation></author><author><name sortKey="Plon, Sharon E" sort="Plon, Sharon E" uniqKey="Plon S" first="Sharon E" last="Plon">Sharon E. Plon</name><affiliation wicri:level="2"><nlm:affiliation>Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Baylor College of Medicine, Texas Children's Hospital, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Wang, Lisa L" sort="Wang, Lisa L" uniqKey="Wang L" first="Lisa L" last="Wang">Lisa L. Wang</name><affiliation wicri:level="2"><nlm:affiliation>Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Baylor College of Medicine, Texas Children's Hospital, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Savage, Sharon A" sort="Savage, Sharon A" uniqKey="Savage S" first="Sharon A" last="Savage">Sharon A. Savage</name><affiliation wicri:level="2"><nlm:affiliation>National Cancer Institute, Rockville, Maryland. walshm2@mskcc.org savagesh@mail.nih.gov.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>National Cancer Institute, Rockville</wicri:cityArea></affiliation></author></analytic><series><title level="j">Clinical cancer research : an official journal of the American Association for Cancer Research</title><idno type="ISSN">1078-0432</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood. Although it is clear that the risk of cancer is increased, there are limited data defining the true incidence of cancer and almost no evidence-based approaches to cancer surveillance in patients with DNA repair disorders. This article is the product of the October 2016 AACR Childhood Cancer Predisposition Workshop, which brought together experts from around the world to discuss and develop cancer surveillance guidelines for children with cancer-prone disorders. Herein, we focus on the more common of the rare DNA repair disorders: ataxia telangiectasia, Bloom syndrome, Fanconi anemia, dyskeratosis congenita, Nijmegen breakage syndrome, Rothmund-Thomson syndrome, and Xeroderma pigmentosum. Dedicated syndrome registries and a combination of basic science and clinical research have led to important insights into the underlying biology of these disorders. Given the rarity of these disorders, it is recommended that centralized centers of excellence be involved directly or through consultation in caring for patients with heritable DNA repair syndromes. Clin Cancer Res; 23(11); e23-e31. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Géorgie (pays)</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Australie-Méridionale</li><li>Californie</li><li>Hollande-Septentrionale</li><li>Maryland</li><li>Tennessee</li><li>Texas</li><li>Utah</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Paris</li></settlement></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Walsh, Michael F" sort="Walsh, Michael F" uniqKey="Walsh M" first="Michael F" last="Walsh">Michael F. Walsh</name></region><name sortKey="Chang, Vivian Y" sort="Chang, Vivian Y" uniqKey="Chang V" first="Vivian Y" last="Chang">Vivian Y. Chang</name><name sortKey="Cunniff, Christopher" sort="Cunniff, Christopher" uniqKey="Cunniff C" first="Christopher" last="Cunniff">Christopher Cunniff</name><name sortKey="Kohlmann, Wendy K" sort="Kohlmann, Wendy K" uniqKey="Kohlmann W" first="Wendy K" last="Kohlmann">Wendy K. Kohlmann</name><name sortKey="Plon, Sharon E" sort="Plon, Sharon E" uniqKey="Plon S" first="Sharon E" last="Plon">Sharon E. Plon</name><name sortKey="Sandlund, John T" sort="Sandlund, John T" uniqKey="Sandlund J" first="John T" last="Sandlund">John T. Sandlund</name><name sortKey="Savage, Sharon A" sort="Savage, Sharon A" uniqKey="Savage S" first="Sharon A" last="Savage">Sharon A. Savage</name><name sortKey="Wang, Lisa L" sort="Wang, Lisa L" uniqKey="Wang L" first="Lisa L" last="Wang">Lisa L. Wang</name></country><country name="Australie"><region name="Australie-Méridionale"><name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S" last="Scott">Hamish S. Scott</name></region></country><country name="France"><region name="Île-de-France"><name sortKey="Bourdeaut, Franck" sort="Bourdeaut, Franck" uniqKey="Bourdeaut F" first="Franck" last="Bourdeaut">Franck Bourdeaut</name></region></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Molenaar, Jan J" sort="Molenaar, Jan J" uniqKey="Molenaar J" first="Jan J" last="Molenaar">Jan J. Molenaar</name></region></country><country name="Géorgie (pays)"><noRegion><name sortKey="Porter, Christopher C" sort="Porter, Christopher C" uniqKey="Porter C" first="Christopher C" last="Porter">Christopher C. Porter</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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