Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. - Wikidata - wikimedia - TriplyDB

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

http://www.wikidata.org/entity/Q43168013

about

Li-fraumeni syndrome Genetic causes of cancer predisposition in children and adolescents Diagnostic and prognostic features in adrenocortical carcinoma: a single institution case series and review of the literature p53 Proteoforms and Intrinsic Disorder: An Illustration of the Protein Structure-Function Continuum Concept Impact of early postnatal androgen exposure on voice development.Estrogen receptor acting in cis enhances WT and mutant p53 transactivation at canonical and noncanonical p53 target sequences.Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience Realizing the promise of cancer predisposition genes.Association of the germline TP53 R337H mutation with breast cancer in southern Brazil.Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor Review paper: origin and molecular pathology of adrenocortical neoplasms Clinical outcomes and correlates of TP53 mutations and cancer.Childhood adrenocortical tumours: a review.Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data.Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions.Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database.TP53-Associated Pediatric Malignancies.Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.Towards an understanding of the role of p53 in adrenocortical carcinogenesis.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.Adrenocortical tumors and hyperplasias in childhood--etiology, genetics, clinical presentation and therapy.Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.The R337H mutation in TP53 and breast cancer in Brazil Adrenocortical carcinoma: the management of metastatic disease.An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers.Adrenocortical carcinoma: modern management and evolving treatment strategies.Stability and structural recovery of the tetramerization domain of p53-R337H mutant induced by a designed templating ligand.Adrenocortical carcinoma with extension to the inferior vena cava and right atrium: 20-month-old girl with TP53 mutation Novel targeted therapies in adrenocortical carcinoma.TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.Adrenal cortical carcinoma in a child, a rare cause of paediatric endocrinopathy: case report and literature review.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.rAd-p53 enhances the sensitivity of human gastric cancer cells to chemotherapy.Inherited TP53 Mutations and the Li-Fraumeni Syndrome.Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil.Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil.

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P2860

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

http://www.wikidata.org/entity/Q43168013

description

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name

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

@en

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

@nl

type

label

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

@en

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

@nl

prefLabel

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

@en

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

@nl

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Journal of Medical Genetics

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Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

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B C Figueiredo

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C Cheng

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C Rodriguez-Galindo

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E Michalkiewicz

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F Sandrini

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F Watanabe

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G P Zambetti

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J Jenkins

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L Lacerda

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M A Pianovski

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P2860

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

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

A cancer family syndrome in twenty-four kindreds.

Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.

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.

P53 germline mutations in childhood cancers and cancer risk for carrier individuals

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.

Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival.

The codon 47 polymorphism in p53 is functionally significant.

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