ArticleCancer2018
The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas.
Article in Cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- TCGA Classification of Endometrial Cancer: the Place of Carcinosarcoma.Pathology oncology research : POR · 2020Pooled it
- Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.International journal of molecular sciences · 2024Review
- A review of basic to clinical targeted therapy and immunotherapy in uterine serous cancer.Molecular biology reports · 2023Review
- The Role of FBXW7 in Gynecologic Malignancies.Cells · 2023Review
- Primary maxillary sinus carcinosarcoma with multidisciplinary management: a case report with 4 years follow-up and literature review.BMC oral health · 2023Review
- TCGA Molecular Prognostic Groups of Endometrial Carcinoma: Current Knowledge and Future Perspectives.International journal of molecular sciences · 2022Review
- FOXA2 suppresses endometrial carcinogenesis and epithelial-mesenchymal transition by regulating enhancer activity.The Journal of clinical investigation · 2022Article
- Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms.Journal of human genetics · 2021Review
- Tailored Therapy Based on Molecular Characteristics in Endometrial Cancer.BioMed research international · 2021Review
- Analysis of Bulk RNA Sequencing Data Reveals Novel Transcription Factors Associated With Immune Infiltration Among Multiple Cancers.Frontiers in immunology · 2021Article
- Human Papillomavirus Infection in Head and Neck Squamous Cell Carcinomas: Transcriptional Triggers and Changed Disease Patterns.Frontiers in cellular and infection microbiology · 2020Review
- Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.Nature communications · 2019Article
- Genome-wide profiling of prognosis-related alternative splicing signatures in sarcoma.Annals of translational medicine · 2019Article
- Clinical actionability of molecular targets in endometrial cancer.Nature reviews. Cancer · 2019Review
- Review
- Integrative analysis of the forkhead box A2 (FOXA2) cistrome for the human endometrium.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- The long noncoding RNA Falcor regulates Foxa2 expression to maintain lung epithelial homeostasis and promote regeneration.Genes & development · 2019Article
- Efficacy of liquid-based genetic diagnosis of endometrial cancer.Cancer science · 2018Article
- Functional characterization of recurrent FOXA2 mutations seen in endometrial cancers.International journal of cancer · 2018Article
- Generation of Mouse for Conditional Expression of Forkhead Box A2.Endocrinology · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundUterine carcinosarcomas (UCSs) are a rare but clinically aggressive form of cancer. They are biphasic tumors consisting of both epithelial and sarcomatous components. The majority of uterine carcinosarcomas are clonal, with the carcinomatous cells undergoing metaplasia to give rise to the sarcomatous component. The objective of the current study was to identify novel somatically mutated genes in UCSs.
methodsWe whole exome sequenced paired tumor and nontumor DNAs from 14 UCSs and orthogonally validated 464 somatic variants using Sanger sequencing. Fifteen genes that were somatically mutated in at least 2 tumor exomes were Sanger sequenced in another 39 primary UCSs.
resultsOverall, among 53 UCSs in the current study, the most frequently mutated of these 15 genes were tumor protein p53 (TP53) (75.5%), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) (34.0%), protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A) (18.9%), F-box and WD repeat domain containing 7 (FBXW7) (18.9%), chromodomain helicase DNA binding protein 4 (CHD4) (17.0%), and forkhead box A2 (FOXA2) (15.1%). FOXA2 has not previously been implicated in UCSs and was predominated by frameshift and nonsense mutations. One UCS with a FOXA2 frameshift mutation expressed truncated FOXA2 protein by immunoblotting. Sequencing of FOXA2 in 160 primary endometrial carcinomas revealed somatic mutations in 5.7% of serous, 22.7% of clear cell, 9% of endometrioid, and 11.1% of mixed endometrial carcinomas, the majority of which were frameshift mutations.
conclusionsCollectively, the findings of the current study provide compelling genetic evidence that FOXA2 is a pathogenic driver gene in the etiology of primary uterine cancers, including UCSs. Cancer 2018;124:65-73. © 2017 American Cancer Society.
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