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1.
Pediatr Blood Cancer ; 60(8): 1247-52, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23625733

ABSTRACT

Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology/oncology. A recent workshop held at the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 Annual Meeting included several interactive sessions related to specific familial cancer syndromes, genetic testing and screening, and ethical issues in caring for families with inherited cancer risk. This review highlights the workshop presentations, including a brief background about pediatric cancer predisposition syndromes and the importance of learning about them for the practicing pediatric hematologists/oncologists. This is followed by a brief summary of the newly described cancer predisposition syndromes including Rhabdoid Tumor Predisposition Syndrome, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and Familial Pleuropulmonaryblastoma Tumor Predisposition (DICER1) Syndrome. The next section covers genetic testing and screening for pediatric cancer predisposition syndromes. Ethical issues are also discussed including preimplantation genetic diagnosis or testing (PGD/PGT), suspicious lesions found on tumor screening, and incidental mutations discovered by whole genome sequencing. Finally, the perspective of a family with Li-Fraumeni Syndrome is shared.


Subject(s)
Bioethics , Genetic Predisposition to Disease , Genetic Testing , Li-Fraumeni Syndrome , Societies, Medical , Adolescent , Child , Child, Preschool , Congresses as Topic , Education , Female , Genetic Testing/ethics , Genetic Testing/methods , Humans , Infant , Infant, Newborn , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/genetics , Male , Neoplasms , Syndrome , United States
2.
Cancer Genet ; 205(10): 479-87, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22939227

ABSTRACT

Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium.


Subject(s)
Genes, p53 , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/genetics , Congresses as Topic , Family Health , Female , Genetic Counseling , Genetic Predisposition to Disease , Germ-Line Mutation , Humans , Li-Fraumeni Syndrome/psychology , Male , National Institutes of Health (U.S.) , Neoplasms/genetics , Program Development , Tumor Suppressor Protein p53/genetics , United States
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