Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. - Test2 - elhamkhani - TriplyDB

Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.

Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.

http://www.wikidata.org/entity/Q30554353

about

Diagnostic and prognostic features in adrenocortical carcinoma: a single institution case series and review of the literature Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience The prenatal origins of cancer Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil Pediatric adrenocortical tumors: what they can tell us on adrenal development and comparison with adult adrenal tumors.Genomic landscape of paediatric adrenocortical tumours.Occurrence of Neuroblastoma among TP53 p.R337H Carriers.Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.Adrenocortical Carcinoma: Impact of Surgical Margin Status on Long-Term Outcomes.First case report of an adrenocortical carcinoma caused by a BRCA2 mutation Genomic Disparities in Breast Cancer Among Latinas.Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.Adrenal cancer in 2013: Time to individualize treatment for adrenocortical cancer?Li-Fraumeni syndrome: cancer risk assessment and clinical management.TP53 mutations in human cancer: database reassessment and prospects for the next decade.Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.Etiologic, environmental and inherited risk factors in sarcomas.Adrenocortical growth and cancer.Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.5th International ACC Symposium: Hereditary Predisposition to Childhood ACC and the Associated Molecular Phenotype: 5th International ACC Symposium Session: Not Just for Kids!5th International ACC Symposium: An Outlook to Current and Future Research on the Biology of Adrenocortical Carcinoma: Diagnostic and Therapeutic Applications.Genetics of adrenocortical tumours.Genetic Cancer Risk Assessment for Breast Cancer in Latin America.Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors.p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.Expanding the reach of the p53 tumor suppressor network.Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study.Clinical implications of germline mutations in breast cancer: TP53.Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients.Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.Pathology of the adrenal cortex: a reappraisal of the past 25 years focusing on adrenal cortical tumors.Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

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Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.

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Bonald C Figueiredo

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Carmem M C M Fiori

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Cesar C Sabbaga

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Danilo C Carvalho

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Elis R Sade

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Francisco R O Figueiredo

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Gislaine Custódio

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Guilherme A Parise

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P2860

p53 in health and disease

An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.

Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors

TP53-Associated Pediatric Malignancies.

Clinical and outcome characteristics of children with adrenocortical tumors: a report from the International Pediatric Adrenocortical Tumor Registry.

Tumors associated with p53 germline mutations: a synopsis of 91 families.

Towards an understanding of the role of p53 in adrenocortical carcinogenesis.

Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

Models of comprehensive multidisciplinary care for individuals in the United States with genetic disorders.

Molecular epidemiology of adrenocortical tumors in southern Brazil.

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2619-2626

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Roberto Pontarolo

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23733769

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