Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E511K
Back to variants list

RET

NM_020975.6:p.E511K

Associated Papers

Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.

Srivastava A et al.

European Journal of Endocrinology, 2025

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2

Clinical utility of comprehensive liquid molecular profiling in patients with advanced endometrial cancer.

Blanc-Durand F et al.

Cancer, 2024

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Acute Lymphoblastic Leukemia with Myeloid Mutations Is a High-Risk Disease Associated with Clonal Hematopoiesis.

Saygin C et al.

Blood Cancer Discovery, 2024

38150184 (PubMed )
Supplement: bcd-23-0106_supplementary_tables_1-11_suppst1.pdf

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Davidson AL et al.

Genome Medicine, 2023

37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4

RET-Altered Cancers-A Tumor-Agnostic Review of Biology, Diagnosis and Targeted Therapy Activity.

Desilets A et al.

Cancers, 2023

Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.

Elisei R et al.

Endocrine, 2023

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Tabata J et al.

Cancer Research, 2022

36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s1_suppst1.xlsx › Supplementary_Table_S1

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

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

Targeting Rearranged during Transfection in Cancer: A Perspective on Small-Molecule Inhibitors and Their Clinical Development.

Saha D et al.

Journal of Medicinal Chemistry, 2021

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors.

Ahmed AA et al.

Ear, Nose, & Throat Journal, 2021

Germline RET variants underlie a subset of paediatric osteosarcoma.

Kovac M et al.

Journal of Medical Genetics, 2021

Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Lee Y et al.

Cancer Research and Treatment, 2021

Post-radiation circulating tumor DNA as a prognostic factor in locally advanced esophageal squamous cell carcinoma.

Jia R et al.

Oncology Letters, 2021

33365079 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_SII

Roles of the RET Proto-oncogene in Cancer and Development.

Takahashi M et al.

Jma Journal, 2020

REToma: a cancer subtype with a shared driver oncogene.

Kohno T et al.

Carcinogenesis, 2020

Ret Receptor Has Distinct Alterations and Functions in Breast Cancer.

Gattelli A et al.

Journal of Mammary Gland Biology and Neoplasia, 2020

RET rearrangements are actionable alterations in breast cancer.

Paratala BS et al.

Nature Communications, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s008.xlsx › S7_Table

Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes.

Drilon A et al.

Nature Reviews. Clinical Oncology, 2018

A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Sun JX et al.

Plos Computational Biology, 2018

29415044 (PubMed )
Supplement: pcbi.1005965.s007.pdf

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

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

In vitro transforming potential, intracellular signaling properties and sensitivity to a kinase inhibitor (sorafenib) of RET proto-oncogene variants Glu511Lys, Ser649Leu and Arg886Trp.

Prazeres H et al.

Endocrine-related Cancer, 2016

Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.

Ross JS et al.

Cancer, 2016

Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.

Cohen PR et al.

Oncotarget, 2016

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY et al.

Plos One, 2016

27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2

Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.

Silva AL et al.

Endocrine, 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

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

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Wells SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

Sarika HL et al.

Clinical Endocrinology, 2012

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

The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo.

Oliveira MN et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

In vitro transforming potential, intracellular signaling properties, and sensitivity to a kinase inhibitor (sorafenib) of RET proto-oncogene variants Glu511Lys, Ser649Leu, and Arg886Trp.

Prazeres H 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."