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Li-Fraumeni translocation

Zhixing Yao, Zaki A Sherif
The Li-Fraumeni Syndrome (LFS), a genetically rare heterogeneous cancer syndrome, is characterized primarily by a germline p53 (TP53) gene mutation. We recently discovered a balanced reciprocal chromosomal translocation t(11;15)(q23;q15) in the non-cancerous skin fibroblasts of a bilateral breast cancer patient in LFS family. This prompted us to investigate the breakpoint region of the translocation, which uncovered a gene that encodes a Notch ligand, DLL4, (locus at 15q15.1), a key target in tumor vasculature...
August 16, 2016: Oncotarget
Baheyeldin Salem, Sean Hofherr, Joyce Turner, Leslie Doros, Patroula Smpokou
Childhood rhabdomyosarcoma (RMS) accounts for approximately 3.5% of cancer cases among children 0 to 14 years of age. Genetic conditions associated with high risk of childhood RMS include Li-Fraumeni syndrome, pleuropulmonary blastoma, Beckwith-Wiedemann syndrome, and some RASopathies, such as neurofibromatosis type 1, Costello syndrome (CS), and Noonan syndrome (NS). Here, we report the rare case of a 4-year-old girl with clinical features of NS who developed an embryonal RMS of the chest and needed emergent treatment...
November 2016: Journal of Pediatric Hematology/oncology
Cai Chen, Christoph Bartenhagen, Michael Gombert, Vera Okpanyi, Vera Binder, Silja Rƶttgers, Jutta Bradtke, Andrea Teigler-Schlegel, Jochen Harbott, Sebastian Ginzel, Ralf Thiele, Peter Husemann, Pina F I Krell, Arndt Borkhardt, Martin Dugas, Jianda Hu, Ute Fischer
20% of children suffering from high hyperdiploid acute lymphoblastic leukemia develop recurrent disease. The molecular mechanisms are largely unknown. Here, we analyzed the genetic landscape of five patients at relapse, who developed recurrent disease without prior high-risk indication using whole-exome- and whole-genome-sequencing. Oncogenic mutations of RAS pathway genes (NRAS, KRAS, FLT3, n=4) and deactivating mutations of major epigenetic regulators (CREBBP, EP300, each n=2 and ARID4B, EZH2, MACROD2, MLL2, each n=1) were prominent in these cases and virtually absent in non-recurrent cases (n=6) or other pediatric acute lymphoblastic leukemia cases (n=18)...
September 2015: Leukemia Research
A Idbaih
INTRODUCTION: OMICS is the term used to designate new biological sciences investigating a large group of molecules in biological samples. For instance, genomics and transcriptomics study changes in genome and transcription expression respectively. Numerous others OMICS are emerging (e.g. epigen-, prote-, metabol-, lipid-, glucid-OMICS). Support from bioinformatics and biostatistics, together with new molecular biology technologies for screening these large molecular groups (i.e. high-throughput biological arrays), has led to the development of these scientific fields...
October 2011: Revue Neurologique
Zaki A Sherif, Mark Danielsen
Li-Fraumeni Syndrome (LFS) is characterized by early-onset carcinogenesis involving multiple tumor types and shows autosomal dominant inheritance. Approximately 70% of LFS cases are due to germline mutations in the TP53 gene on chromosome 17p13.1. Mutations have also been found in the CHEK2 gene on chromosome 22q11, and others have been mapped to chromosome 11q23. While characterizing an LFS family with a documented defect in TP53, we found one family member who developed bilateral breast cancer at age 37 yet was homozygous for wild-type TP53...
July 1, 2006: Cancer Genetics and Cytogenetics
Silvia Capponcelli, Elena Pedrini, Maria Antonietta Cerone, Valeria Corti, Silvia Fontanesi, Massimo Alessio, Angela Bachi, Silvia Soddu, Domenico Ribatti, Piero Picci, Lee J Helman, Giorgio Cantelli-Forti, Luca Sangiorgi
The TP53 tumor suppressor gene is the most frequent target for genetic alterations in human cancer. TP53 gene alterations may result in the gain of oncogenic functions such as neoangiogenesis and resistance to therapy. The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors. All of the patients were treated with protocols that included doxorubicin hydrochloride (DX) as a pivotal drug...
August 2005: Human Mutation
Hooman Ganjavi, David Malkin
In recent years, knowledge of the molecular genetics of childhood cancers has been increasing at an exponential rate. The study of the molecular mechanisms of oncogenesis has led to an understanding of the role that tumor suppressors, oncogenes, and deoxyribonucleic acid (DNA) repair genes play in development of the disease. Chromosomal translocations can lead to the disruption of growth regulatory genes or the formation of growth stimulatory fusion genes in leukemias and solid tumors. These alterations can occur sporadically or can be inherited, which often leads to cancer in children or young adults...
August 2002: Clinical Orthopaedics and related Research
M Horwitz
Familial leukemia is rare, but, as is the case with other cancer family syndromes, its study is likely to lead to the identification of genes causative of the far more common, sporadic cases. I review the clinical and, what is known of the molecular genetic features of familial leukemia. I propose a nosology based on whether the leukemia is a component of a medical syndrome or exists as a solitary disease, the apparent mode of inheritance, and the distribution of leukemia types and subtypes in affected family members...
August 1997: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
C A Felix, M R Hosler, D Provisor, K Salhany, E A Sexsmith, D J Slater, N K Cheung, N J Winick, E A Strauss, R Heyn, B J Lange, D Malkin
We investigated the frequency of p53 mutations in 19 pediatric cases of therapy-related leukemia or myelodysplastic syndrome. Eleven children presented with acute myeloid leukemia, one with mixed-lineage leukemia, two with acute lymphoblastic leukemia, and five with myelodysplasia at times ranging from 11 months to 9 years after a primary cancer diagnosis. The primary cancers, which included 11 solid tumors and eight leukemias, were treated with various combinations of DNA topoisomerase II inhibitors, alkylating agents, or irradiation...
May 15, 1996: Blood
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