Cargando…

TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence

BACKGROUND: The p.Arg337His mutation of the TP53 is the most frequent germline missense variant associated with cancer described so far in this gene. It is mainly found in the South and Southeastern regions of Brazil, where it has been associated with a high incidence of pediatric adrenocortical (AC...

Descripción completa

Detalles Bibliográficos
Autores principales:	Seidinger, Ana L., Caminha, Isabel P., Mastellaro, Maria J., Gabetta, Carmen S., Nowill, Alexandre E., Pinheiro, Vitória R. P., Yunes, José A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503091/ https://www.ncbi.nlm.nih.gov/pubmed/32592449 http://dx.doi.org/10.1002/mgg3.1168

Ejemplares similares

Occurrence of Neuroblastoma among TP53 p.R337H Carriers
por: Seidinger, Ana Luiza, et al.
Publicado: (2015)

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients
por: Hahn, Eriza Cristina, et al.
Publicado: (2018)

Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?
por: Vieira, Igor Araujo, et al.
Publicado: (2021)

Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p
por: Paskulin, Diego Davila, et al.
Publicado: (2015)

Association of the germline TP53 R337H mutation with breast cancer in southern Brazil
por: Assumpção, Juliana G, et al.
Publicado: (2008)

Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
por: Watanabe, Daisuke, et al.
Publicado: (2023)

Association of the germline TP53 R337H mutation with breast cancer in southern Brazil
por: Assumpção, Juliana G, et al.
Publicado: (2011)

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
por: Subramony, SH, et al.
Publicado: (2013)

Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His
por: Shteinberg, Michal, et al.
Publicado: (2017)

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder
por: Strauss, Kevin A., et al.
Publicado: (2014)

SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation
por: Patni, Nivedita, et al.
Publicado: (2019)

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
por: Campopiano, Rosa, et al.
Publicado: (2021)

Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward
por: Tosin, Karina C. F., et al.
Publicado: (2021)

The Brazilian TP53 mutation (R337H) and sarcomas
por: Volc, Sahlua Miguel, et al.
Publicado: (2020)

An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation
por: Yoon, Jin A., et al.
Publicado: (2018)

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
por: Nan, Haitian, et al.
Publicado: (2021)

Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis
por: Kuek, Stephanie L., et al.
Publicado: (2022)

Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
por: Nabavi Nouri, Maryam, et al.
Publicado: (2018)

Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series
por: Tabata, Tomoka, et al.
Publicado: (2021)

Rapidly Progressing Urothelial Carcinoma Due to a Rare TP53 (p.Arg110Pro) Mutation: A Case Report and Review of the Literature
por: Saoud, Ragheed, et al.
Publicado: (2021)

Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
por: Pinto, Emilia M., et al.
Publicado: (2023)

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers
por: de Brouwer, Remco, et al.
Publicado: (2023)

The R337H mutation in TP53 and breast cancer in Brazil
por: Gomes, Magda CB, et al.
Publicado: (2012)

The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy
por: van der Heijden, J. F., et al.
Publicado: (2013)

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
por: Yamamoto, Jumpei, et al.
Publicado: (2021)

Penetrance of the TP53 R337H Mutation and Pediatric Adrenocortical Carcinoma Incidence Associated with Environmental Influences in a 12-Year Observational Cohort in Southern Brazil
por: Costa, Tatiana E. J., et al.
Publicado: (2019)

Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran
por: Heshmati, Ali, et al.
Publicado: (2021)

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy
por: van der Zwaag, P. A., et al.
Publicado: (2013)

Modeling the prevalent germline TP53 R337H mutation in mouse
por: Park, Ji-Hoon, et al.
Publicado: (2019)

Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His
por: Robinson, John L., et al.
Publicado: (2015)

The p.Arg435His Variation of IgG3 With High Affinity to FcRn Is Associated With Susceptibility for Pemphigus Vulgaris—Analysis of Four Different Ethnic Cohorts
por: Recke, Andreas, et al.
Publicado: (2018)

Erratum: Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran
por: Heshmati, Ali, et al.
Publicado: (2022)

Structural and Population-Based Evaluations of TBC1D1 p.Arg125Trp
por: Richardson, Tom G., et al.
Publicado: (2013)

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
por: Cuello, Friederike, et al.
Publicado: (2021)

SAT337 Maternal Cell free DNA Testing Reveals Incidental Finding Of Adrenocortical Carcinoma
por: Akanbi, Folake, et al.
Publicado: (2023)

A Pediatric Case of Glioblastoma Multiforme Associated With a Novel Germline p.His112CysfsTer9 Mutation in the MLH1 Gene Accompanied by a p.Arg283Cys Mutation in the TP53 Gene: A Case Report
por: Stajkovska, Aleksandra, et al.
Publicado: (2019)

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation
por: Hwang, Ji-won, et al.
Publicado: (2017)

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
por: Antoniutti, Guido, et al.
Publicado: (2022)

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
por: Sriprakoon, Vachiravit, et al.
Publicado: (2022)

Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction
por: Verstraelen, Tom E, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_b47cu11vu4mhf4can863jobbq4