Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.T278N
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RET

NM_020975.6:p.T278N

Associated Papers

Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.

Ku WC et al.

Clinical Proteomics, 2025

39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

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

36936415 (PubMed )
Supplement: Table2.XLSX › RET

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Park HS et al.

Frontiers in Endocrinology, 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

35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Shin G et al.

Genome Medicine, 2021

34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.

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

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency.

Pang X et al.

Journal for Immunotherapy of Cancer, 2020

32636238 (PubMed )
Supplement: jitc-2019-000463supp001.pdf

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

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

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

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6

RET somatic mutations are underrecognized in Hirschsprung disease.

Jiang Q et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P19

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

Surgical therapy and next-generation sequencing-based genetic alteration analysis of malignant solitary fibrous tumor of the pleura.

Song Z et al.

Oncotargets and Therapy, 2018

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM et al.

Human Molecular Genetics, 2015

In silico analysis of RET variants in medullary thyroid cancer: from the computer to the bedside.

Heineman TE et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 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

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.

Zhang Z et al.

International Journal of Clinical and Experimental Pathology, 2015

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1

RET mutation and expression in small-cell lung cancer.

Dabir S et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014

The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.

Qi XP et al.

Journal of Biosciences, 2014

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK et al.

Genome Medicine, 2012

22640420 (PubMed )
Supplement: gm347-S2.DOC

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT et al.

Plos One, 2011

Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.

Chang CF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2009

Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.

Sangkhathat S et al.

Journal of Human Genetics, 2006

De novo RET proto-oncogene mutation in a patient with multiple endocrine neoplasia type 2B.

Chang TJ et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1999

Germline RET proto-oncogene mutations in two Taiwanese families with multiple endocrine neoplasia type 2A.

Wu SL et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1998

RET protooncogene mutations in patients with apparently sporadic medullary thyroid carcinoma.

Huang CN et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1998

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