Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S904S
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RET

NM_020975.6:p.S904S

Associated Papers

Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.

Onyia AF et al.

Cancer Genetics, 2026

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Genetic landscape of Romanian PPGLs.

Lider-Burciulescu SM et al.

Journal of Cellular and Molecular Medicine, 2024

First-in-human, phase 1 dose-escalation and dose-expansion study of a RET inhibitor SY-5007 in patients with advanced RET-altered solid tumors.

Li W et al.

Signal Transduction and Targeted Therapy, 2024

39489747 (PubMed )
Supplement: 41392_2024_2006_MOESM2_ESM.docx

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

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

Distribution of RET proto-oncogene variants in children with appendicitis.

Schultz J et al.

Molecular Genetics & Genomic Medicine, 2022

The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Richter A et al.

Cells, 2022

Discrepancies of RET gene and risk of differentiated thyroid carcinoma.

Rashid FA et al.

Cancer Biomarkers : Section a of Disease Markers, 2022

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Recommendations for Specimen and Therapy Selection in Colorectal Cancer.

Patel SB et al.

Oncology and Therapy, 2021

33895946 (PubMed )
Supplement: 40487_2021_151_MOESM1_ESM.pdf

Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma.

Skalniak A et al.

International Journal of Molecular Sciences, 2021

Calibration-free NGS quantitation of mutations below 0.01% VAF.

Dai P et al.

Nature Communications, 2021

34675197 (PubMed )
Supplement: 41467_2021_26308_MOESM6_ESM.xlsx › Supplementary_Data_5

Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.

Kassem N et al.

Journal of the Egyptian National Cancer Institute, 2021

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM 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

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

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

MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

Amodru V et al.

Endocrine, 2020

Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Spence T et al.

Current Oncology (toronto, Ont.), 2019

Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis.

Borowczyk M et al.

Polish Archives of Internal Medicine, 2019

Clinical Validation of Discordant Trunk Driver Mutations in Paired Primary and Metastatic Lung Cancer Specimens.

Tseng LH et al.

American Journal of Clinical Pathology, 2019

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 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

29961873 (PubMed )
Supplement: djy110_supplementary_data.zip › djy110_Supplementary_Data › djy110.xlsx › S4

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Williams HL et al.

Virchows Archiv : an International Journal of Pathology, 2018

30105577 (PubMed )
Supplement: 428_2018_2411_MOESM1_ESM.xlsx › REF6

The RET C611Y mutation causes MEN 2A and associated cutaneous

Qi XP et al.

Endocrine Connections, 2018

[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].

Wu K et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2018

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.

Janjua MU et al.

Journal of Medical Case Reports, 2018

Transcriptomic analysis and mutational status of IDH1 in paired primary-recurrent intrahepatic cholangiocarcinoma.

Peraldo-Neia C et al.

Bmc Genomics, 2018

29871612 (PubMed )
Supplement: 12864_2018_4829_MOESM13_ESM.xlsx › Sheet1

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

29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4

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

Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.

DU ZF et al.

Journal of Biosciences, 2017

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T et al.

European Journal of Human Genetics : Ejhg, 2016

RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Qi XP et al.

Oncotarget, 2015

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

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

Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.

Ngo DN 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

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

[Study of polymorphisms associated to Hirschsprung's disease].

Vega Hernández L et al.

Cirugia Pediatrica : Organo Oficial De La Sociedad Espanola De Cirugia Pediatrica, 2011

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2011

RET gene mutations are not involved in the origin of human testicular seminoma.

Chevalier N et al.

International Journal of Andrology, 2010

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