Varaico: Literature-Extracted Genetic Variants

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

Novel estrogen receptor-α gene inactivating missense variant in a woman: Therapeutic challenge and long-term follow-up data.

Feigerlova E

Bone, 2025

Comparative Analysis of Comprehensive Genomic Profile in Thymomas and Recurrent Thymomas Reveals Potentially Actionable Mutations for Target Therapies.

Lococo F et al.

International Journal of Molecular Sciences, 2024

Identification of a novel ESR1 mutation in a Chinese PCOS woman with estrogen insensitivity in IVF treatment.

Liu F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.

Li Y et al.

Science Signaling, 2020

ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile.

Li Y et al.

Endocrinology, 2020

Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.

Brakta S et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.

Jiménez-Panizo A et al.

Endocrine-related Cancer, 2019

Genetic disorders of nuclear receptors.

Achermann JC et al.

The Journal of Clinical Investigation, 2017

Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.

Bernard V et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Ramos N et al.

Annales D'endocrinologie, 2016

Protein-structure-guided discovery of functional mutations across 19 cancer types.

Niu B et al.

Nature Genetics, 2016