Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.T594T
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ESR1

NM_000125.4:p.T594T

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

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 › S5.LowCoverageVariantsExpPanel

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

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU638

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Suarez-Kelly LP et al.

Cold Spring Harbor Molecular Case Studies, 2018

29449315 (PubMed )
Supplement: supp_mcs.a002352_Supplemental_Table_3.xls › SuppTable3.modified.20171216

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.s003.xlsx › S3

Lack of association of hormone receptor polymorphisms with migraine.

Corominas R et al.

European Journal of Neurology, 2009

Investigating the phenotypes and genotypes of breast cancer in women with African ancestry: the need for more genetic epidemiology.

Hayanga AJ et al.

The Surgical Clinics of North America, 2007

A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.

Horikoshi T et al.

Human Genetics, 2006

Full sequencing analysis of estrogen receptor-alpha gene polymorphism and its association with breast cancer risk.

Han W et al.

Anticancer Research, 0

Polymorphisms of human estrogen receptor (ER) gene alpha and beta in prostate cancer PC-EW and PC-OR cell lines.

Bergner CC et al.

Anticancer Research, 0

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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."