ArticlePloS one2014
Designing a high-throughput somatic mutation profiling panel specifically for gynaecological cancers.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 40 citations in OpenAlex.
- The Role of FBXW7 in Gynecologic Malignancies.Cells · 2023Review
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- Polyamines in cancer: integrating organismal metabolism and antitumour immunity.Nature reviews. Cancer · 2022Review
- Integrating Protein-Protein Interaction Networks and Somatic Mutation Data to Detect Driver Modules in Pan-Cancer.Interdisciplinary sciences, computational life sciences · 2022Article
- TargetingCancers · 2021Review
- Genomic Amplification and Functional Dependency of the Gamma Actin GeneInternational journal of molecular sciences · 2020Article
- Fibroblast growth factor receptor signaling as therapeutic targets in female reproductive system cancers.Journal of Cancer · 2020Review
- Redox inhibition of protein phosphatase PP2A: Potential implications in oncogenesis and its progression.Redox biology · 2019Review
- Fibroblast growth factor receptors as treatment targets in clinical oncology.Nature reviews. Clinical oncology · 2019Review
- MGL Ligand Expression Is Correlated to Lower Survival and Distant Metastasis in Cervical Squamous Cell and Adenosquamous Carcinoma.Frontiers in oncology · 2019Article
- PP2A: A Promising Biomarker and Therapeutic Target in Endometrial Cancer.Frontiers in oncology · 2019Review
- The precision prevention and therapy of HPV-related cervical cancer: new concepts and clinical implications.Cancer medicine · 2018Review
- Somatic Host Cell Alterations in HPV Carcinogenesis.Viruses · 2017Review
- Mutational analysis of the RAS/RAF/MEK/ERK signaling pathway in 260 Han Chinese patients with cervical carcinoma.Oncology letters · 2017Article
- Prognostic value and clinicopathologic characteristics of L1 cell adhesion molecule (L1CAM) in a large series of vulvar squamous cell carcinomas.Oncotarget · 2016Article
- Somatic mutation in PIK3CA is a late event in cervical carcinogenesis.The journal of pathology. Clinical research · 2015Article
- Epidermal growth factor receptor pathway mutation and expression profiles in cervical squamous cell carcinoma: therapeutic implications.Journal of translational medicine · 2015Article
- Refining prognosis and identifying targetable pathways for high-risk endometrial cancer; a TransPORTEC initiative.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Article
- Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome.PloS one · 2015Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mutations play a major role in tumour initiation and progression. The mutation status of a tumour may predict prognosis and guide targeted therapies. The majority of techniques to study oncogenic mutations require high quality and quantity DNA or are analytically challenging. Mass-spectrometry based mutation analysis however is a relatively simple and high-throughput method suitable for formalin-fixed, paraffin-embedded (FFPE) tumour material. Targeted gene panels using this technique have been developed for several types of cancer. These current cancer hotspot panels are not focussed on the genes that are most relevant in gynaecological cancers. In this study, we report the design and validation of a novel, mass-spectrometry based panel specifically for gynaecological malignancies and present the frequencies of detected mutations. Using frequency data from the online Catalogue of Somatic Mutations in Cancer, we selected 171 somatic hotspot mutations in the 13 most important genes for gynaecological cancers, being BRAF, CDKN2A, CTNNB1, FBXW7, FGFR2, FGFR3, FOXL2, HRAS, KRAS, NRAS, PIK3CA, PPP2R1A and PTEN. A total of 546 tumours (205 cervical, 227 endometrial, 89 ovarian, and 25 vulvar carcinomas) were used to test and validate our panel, and to study the prevalence and spectrum of somatic mutations in these types of cancer. The results were validated by testing duplicate samples and by allele-specific qPCR. The panel presented here using mass-spectrometry shows to be reproducible and high-throughput, and is usefull in FFPE material of low quality and quantity. It provides new possibilities for studying large numbers of gynaecological tumour samples in daily practice, and could be useful in guided therapy selection.
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