Associated Papers
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.
Sahakian N et al.
Cancers, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Distribution of RET proto-oncogene variants in children with appendicitis.
Schultz J et al.
Molecular Genetics & Genomic Medicine, 2022
Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma.
Skalniak A et al.
International Journal of Molecular Sciences, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.
Amodru V et al.
Endocrine, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Temozolomide Is a Potential Therapeutic Tool for Patients With Metastatic Pheochromocytoma/Paraganglioma-Case Report and Review of the Literature.
Tong A et al.
Frontiers in Endocrinology, 2020
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Transcriptome Characterization of Matched Primary Breast and Brain Metastatic Tumors to Detect Novel Actionable Targets.
Varešlija D et al.
Journal of the National Cancer Institute, 2019
Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course.
Kaczmarek-Ryś M et al.
Endocrine-related Cancer, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas.
Roszko KL et al.
Journal of the Endocrine Society, 2017
Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.
Sromek M et al.
Endocrine Pathology, 2017
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Di Zanni E et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N et al.
Bmc Medical Genomics, 2017
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
Possible Impact of RET Polymorphism and Its Haplotypic Association Modulates the Susceptibility to Thyroid Cancer.
Khan MS et al.
Journal of Cellular Biochemistry, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
RET polymorphisms might be the risk factors for thyroid cancer.
Huang RX et al.
International Journal of Clinical and Experimental Pathology, 2015
RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.
Vaclavikova E et al.
Plos One, 2014
RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese.
Pan ZW et al.
Journal of Pediatric Surgery, 2012
Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.
Margraf RL et al.
Journal of Thyroid Research, 2012
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Quedas EP et al.
Clinics (sao Paulo, Brazil), 2012
Variant identification in multi-sample pools by illumina genome analyzer sequencing.
Margraf RL et al.
Journal of Biomolecular Techniques : Jbt, 2011
The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.
Fernández RM et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
Germ-line DNA polymorphisms and susceptibility to differentiated thyroid cancer.
Adjadj E et al.
The Lancet. Oncology, 2009
The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma.
Weinhaeusel A et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series.
Fugazzola L et al.
Clinical Endocrinology, 2008
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.
Griseri P et al.
Human Mutation, 2007
RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population.
Costa P et al.
Endocrine, 2005
RET polymorphisms and haplotypes and risk of differentiated thyroid cancer.
Ho T et al.
The Laryngoscope, 2005
Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes.
Fitze G et al.
American Journal of Medical Genetics. Part A, 2004
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
Fernández RM et al.
Human Mutation, 2003
Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease.
Griseri P et al.
Gut, 2003
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.
Fitze G et al.
Journal of Medical Genetics, 2003
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
Griseri P et al.
American Journal of Human Genetics, 2002
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.
Griseri P et al.
European Journal of Human Genetics : Ejhg, 2000