Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.C134W
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FOXL2

NM_023067.4:p.C134W

Associated Papers

Anaplastic Juvenile Granulosa Cell Tumor: A Report of 10 Cases of an Unemphasized Variant With Adverse Prognostic Features Characterized by TP53 Inactivation With MYC Family Amplifications.

Boyraz B et al.

The American Journal of Surgical Pathology, 2026

Phase II clinical trial of nirogacestat in patients with relapsed ovarian granulosa cell tumours.

Grisham RN et al.

Clinical and Translational Medicine, 2026

Ovarian Sertoli-Leydig cell tumors with heterologous rhabdomyosarcoma: Clinicopathologic features and molecular analysis highlighting recurrent genetic alterations.

Zou YS et al.

Histopathology, 2025

FGFR1 Mutations Are Rare Alternate Oncogenic Drivers in FOXL2 -Wildtype Adult Granulosa Cell Tumors of the Ovary.

Kolin DL et al.

The American Journal of Surgical Pathology, 2025

Ovarian Sex Cord Tumor With Annular Tubules (SCTAT) Harbor Recurrent Copy Number Alterations, Including Monosomy 22.

Leader AM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Adult granulosa cell tumours of the testis analogous to ovarian counterparts are exceptionally rare: analysis of a multicentric series and review of the literature.

Ricci C et al.

Histopathology, 2025

Molecular and pathological analysis of FOXL2 and TERT promoter mutations in adult-type granulosa cell tumors of the ovary: a study of 64 Japanese patients.

Yanagida S et al.

Journal of Gynecologic Oncology, 2025

Multiplexed Imaging Mass Cytometry Reveals Tumor-immune Microenvironment-dependent Hormone Receptor Expression in Adult-Type Ovarian Granulosa Cell Tumors.

Khlebus EY et al.

Cancer Research Communications, 2025

Ovarian Gynandroblastoma: A Rare Sex Cord-Stromal Tumor with Unique Morphological, Genetic, and Clinical Features-A Series of Two Patients with Clinicopathological and Molecular Analysis, and a Review of the Literature.

Lucas E et al.

International Journal of Surgical Pathology, 2025

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins.

Fawzy M et al.

Plos Computational Biology, 2025

A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.

Němejcová K et al.

Virchows Archiv : an International Journal of Pathology, 2025

Adult Granulosa Cell Tumors of the Ovary With Tubular Differentiation: A Report of 80 Examples of an Underemphasized Feature With Clinicopathologic and Genomic Differences From Other Sex Cord-Stromal Tumors.

Ray LJ et al.

The American Journal of Surgical Pathology, 2025

Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling.

Chen LT et al.

Genome Research, 2025

39805703 (PubMed )
Supplement: Supplemental_Table_S2.xlsx › Sheet1

CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds.

Amarilla-Quintana S et al.

Molecular Oncology, 2025

Gain-of-Function Chromatin Remodeling Activity of Oncogenic FOXL2C134W Reprograms Glucocorticoid Receptor Occupancy to Drive Granulosa Cell Tumors.

Welte T et al.

Cancer Research, 2025

The Molecular Landscape of 227 Adult Granulosa Cell Tumors of the Ovary: Insights into the Progression from Primary to Recurrence.

Michálková R et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

An inducible FOXL2-dependent mouse model of ovarian adult type granulosa cell tumor.

Li J et al.

Gynecologic Oncology, 2025

Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway.

Šafanda A et al.

Diagnostic Pathology, 2025

Ovarian Adult Granulosa Cell Tumors: A Scoping Review of DNA Alterations and Their Known Significance.

Karstensen S et al.

Anticancer Research, 2025

Female adnexal tumor of probable Wolffian origin (FATWO): a case report and literature review.

Yan Y et al.

International Journal of Clinical and Experimental Pathology, 2025

Novel FOXL2 Mutation in an Ovarian Adult Granulosa Cell Tumor: Report of a Case With Diagnostic and Clinicopathologic Implications.

Nagy A et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2024

Germline variant affecting p53β isoforms predisposes to familial cancer.

Schubert SA et al.

Nature Communications, 2024

39294166 (PubMed )
Supplement: 41467_2024_52551_MOESM1_ESM.pdf

The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for Druggable EGFR Variants in Non-Small-Cell Lung Cancer.

Szpechcinski A et al.

International Journal of Molecular Sciences, 2024

39063150 (PubMed )
Supplement: ijms-25-07908-s001.zip › ijms-3103240-supplementary.pdf

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Jordan P et al.

Clinical Genetics, 2024

Deep-Learning Model for Tumor-Type Prediction Using Targeted Clinical Genomic Sequencing Data.

Darmofal M et al.

Cancer Discovery, 2024

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

A cellular model provides insights into the pathogenicity of the oncogenic FOXL2 somatic variant p.Cys134Trp.

Herman L et al.

British Journal of Cancer, 2024

FOXL2 Mutation Status in Sex Cord-stromal Tumors Cannot be Predicted by Morphology.

Wessman S et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2024

Relevance of Molecular Pathology for the Diagnosis of Sex Cord-Stromal Tumors of the Ovary: A Narrative Review.

Trecourt A et al.

Cancers, 2023

The forkhead DNA-binding domain binds specific G2-rich RNA sequences.

Zutterling C et al.

Nucleic Acids Research, 2023

FOXL2: a gene central to ovarian function.

Mubeen A et al.

Journal of Clinical Pathology, 2023

Sertoli Cell-Specific Activation of Transforming Growth Factor Beta Receptor 1 Leads to Testicular Granulosa Cell Tumor Formation.

Fang X et al.

Cells, 2023

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Detection of FOXL2 C134W Mutation Status by a Novel BaseScope In Situ Hybridization Assay is Highly Sensitive and Specific for Adult Granulosa Cell Tumors.

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Bilateral Peutz-Jeghers-Associated Sex Cord Tumor With Annular Tubules Combined With Unilateral Adult Granulosa Cell Tumor: A Case Report.

Feng YY et al.

International Journal of Surgical Pathology, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Adult granulosa cell tumor of the testis with malignant tendency: A case report with genetic analysis using high-throughput sequencing.

Deng L et al.

Medicine, 2023

Incidental FOXL2 mutated adult granulosa cell tumour of the ovary with thecoma-like foci.

Fischer AK et al.

Virchows Archiv : an International Journal of Pathology, 2023

Open-label phase II clinical trial of ketoconazole as CYP17 inhibitor in metastatic or advanced non-resectable granulosa cell ovarian tumors: the GREKO (GRanulosa Et KetOconazole) trial, GETHI 2011-03.

Garcia-Donas J et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2023

Comparative Tumor Microenvironment Analysis of Primary and Recurrent Ovarian Granulosa Cell Tumors.

Khlebus E et al.

Molecular Cancer Research : Mcr, 2023

Lineage tracing of mutant granulosa cells reveals in vivo protective mechanisms that prevent granulosa cell tumorigenesis.

Niu S et al.

Cell Death and Differentiation, 2023

Well-differentiated Sertoli-Leydig Cell Tumors (SLCTs) Are Not Associated With DICER1 Pathogenic Variants and Represent a Different Tumor Type to Moderately and Poorly Differentiated SLCTs.

McCluggage WG et al.

The American Journal of Surgical Pathology, 2023

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

Luo W et al.

Journal of Ovarian Research, 2023

The Oncogenic FOXL2 C134W Mutation Is a Key Driver of Granulosa Cell Tumors.

Llano E et al.

Cancer Research, 2023

Multi-omics analysis of the Indian ovarian cancer cohort revealed histotype-specific mutation and gene expression patterns.

Mhatre A et al.

Frontiers in Genetics, 2023

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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."