Associated Papers
Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.
Li Y et al.
British Journal of Haematology, 2025
Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.
Srivastava A et al.
European Journal of Endocrinology, 2025
Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism.
Mai X et al.
Endocrine Journal, 2025
Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.
Ku WC et al.
Clinical Proteomics, 2025
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.
Sahakian N et al.
Cancers, 2023
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 2023
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.
Chen Y et al.
Frontiers in Endocrinology, 2023
Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.
Li C et al.
Frontiers in Genetics, 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
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.
Zhang X et al.
Clinical Genetics, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma.
Ding Y et al.
Peerj, 2022
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Panda G et al.
Frontiers in Pharmacology, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 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
Proteotranscriptomic classification and characterization of pancreatic neuroendocrine neoplasms.
Yang KC et al.
Cell Reports, 2021
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
Fussey JM et al.
Clinical Endocrinology, 2021
Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.
Qi XP et al.
Bmc Cancer, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.
Romei C et al.
International Journal of Molecular Sciences, 2021
Germline RET variants underlie a subset of paediatric osteosarcoma.
Kovac M et al.
Journal of Medical Genetics, 2021
Remarkable Response to Olaparib in a Patient with Combined Hepatocellular-Cholangiocarcinoma Harboring a Biallelic BRCA2 Mutation.
Su YL et al.
Oncotargets and Therapy, 2021
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
Tan LC et al.
Frontiers in Oncology, 2021
The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.
Yang Z et al.
Journal of Cellular and Molecular Medicine, 2020
Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
Lang GT et al.
Annals of Translational Medicine, 2020
Analysis of a pedigree of Peutz-Jeghers syndrome and RET proto-oncogene mutation: one case report and literature review.
Tian LL et al.
Translational Cancer Research, 2020
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.
Ahn YH et al.
Journal of Clinical Medicine, 2020
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen B et al.
Aging, 2020
RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.
Qi XP et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.
Qi XP et al.
Cancer Investigation, 2018
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
ARID1B alterations identify aggressive tumors in neuroblastoma.
Lee SH et al.
Oncotarget, 2017
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
Mathiesen JS et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.
Zhang L et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2017
A 6-Base Pair in Frame Germline Deletion in Exon 7 Of RET Leads to Increased RET Phosphorylation, ERK Activation, and MEN2A.
Latteyer S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar SS et al.
Ebiomedicine, 2016
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 2015
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA et al.
Endocrine-related Cancer, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Overexpression of genes involved in miRNA biogenesis in medullary thyroid carcinomas with RET mutation.
Puppin C et al.
Endocrine, 2014