Associated Papers
A novel multimodal diagnostic framework integrating hyperspectral imaging and deep learning for predicting RET gene mutations in medullary thyroid carcinoma.
Yang Z et al.
Computer Methods and Programs in Biomedicine, 2026
SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.
Yang T et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2026
The shifting landscape of germline RET pathogenic variants with the introduction of panel testing.
Onuma AE et al.
Surgery, 2026
A Novel Targeted Sequence for Chromosome 11p15.5 Maternal Loss in SDHD-Related Paragangliomas.
Lai HP et al.
Genes, Chromosomes & Cancer, 2026
Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.
Qi XP et al.
Frontiers in Endocrinology, 2026
RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
Ricciardi Tenore C et al.
Genes, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.
Shariq OA et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.
Dhotare PS et al.
Bmc Cancer, 2025
Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.
West CE et al.
Jama Network Open, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia.
de Oliveira WL et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.
Gheorghe AM et al.
Diseases (basel, Switzerland), 2025
Medullary Thyroid Carcinoma and Clinical Outcomes in Heterozygous Carriers of the RET K666N Germline Pathogenic Variant.
Yip AT et al.
Jcem Case Reports, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
Corrêa TS et al.
Genes, 2024
MEN2 phenotype in a family with germline heterozygous rare RET K666N variant.
La Greca A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Accelerated MEN2A in homozygous RET carriers in the context of consanguinity.
Machens A et al.
European Journal of Endocrinology, 2024
Progress and challenges in RET-targeted cancer therapy.
Hu X et al.
Frontiers of Medicine, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
Margraf RL et al.
Human Mutation, 2022
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.
Rosen EY et al.
Nature Communications, 2022
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.
Maciel RMB et al.
European Journal of Endocrinology, 2021
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.
Yu G et al.
Cancers, 2021
Evaluation of grade in a genotyped cohort of sporadic medullary thyroid carcinomas.
Najdawi F et al.
Histopathology, 2021
Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A.
Schirwani S et al.
European Journal of Medical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
REToma: a cancer subtype with a shared driver oncogene.
Kohno T et al.
Carcinogenesis, 2020
Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.
Elisei R et al.
Genes, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
Bernstein-Molho R et al.
Breast Cancer Research and Treatment, 2019
A Homozygous RET K666N Genotype With an MEN2A Phenotype.
Jaber T et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.
Xu JY et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
Yablonski-Peretz T et al.
Breast Cancer Research and Treatment, 2016
A newly identified missense mutation in RET codon 666 is associated with the development of medullary thyroid carcinoma.
Yamazaki M et al.
Endocrine Journal, 2014
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
Mastroianno S et al.
Endocrine, 2011
Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.
Borrello MG et al.
Endocrine-related Cancer, 2011
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
Crockett DK et al.
Plos One, 2011
Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.
Muzza M et al.
European Journal of Endocrinology, 2010
Neurotrophic factor receptor RET: structure, cell biology, and inherited diseases.
Runeberg-Roos P et al.
Annals of Medicine, 2007