ArticleThe Journal of molecular diagnostics : JMD2011
Multiplex mutation screening by mass spectrometry evaluation of 820 cases from a personalized cancer medicine registry.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review.Familial cancer · 2014Pooled it
- A phase II trial of brivanib in recurrent or persistent endometrial cancer: an NRG Oncology/Gynecologic Oncology Group Study.Gynecologic oncology · 2014Trial
- Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2013Trial
- CanSeer: a translational methodology for developing personalized cancer models and therapeutics.Scientific reports · 2025Article
- Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- Identification and clinical impact of potentially actionable somatic oncogenic mutations in solid tumor samples.Journal of translational medicine · 2020Article
- Analytical Evaluation of an NGS Testing Method for Routine Molecular Diagnostics on Melanoma Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA.Diagnostics (Basel, Switzerland) · 2019Article
- Circulating tumour-derived DNA in metastatic soft tissue sarcoma.Oncotarget · 2018Article
- Systemic therapy of brain metastases: non-small cell lung cancer, breast cancer, and melanoma.Neuro-oncology · 2017Review
- The State of the Art in Colorectal Cancer Molecular Biomarker Testing.Advances in anatomic pathology · 2016Review
- How to Target Activated Ras Proteins: Direct Inhibition vs. Induced Mislocalization.Mini reviews in medicinal chemistry · 2016Review
- Racial diversity of actionable mutations in non-small cell lung cancer.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2015Article
- Article
- Prospective enterprise-level molecular genotyping of a cohort of cancer patients.The Journal of molecular diagnostics : JMD · 2014Article
- Reply: Intra-patient heterogeneity of BRAF mutation status: fact or fiction?British journal of cancer · 2014Article
- The clinical response to vemurafenib in a patient with a rare BRAFV600DK601del mutation-positive melanoma.BMC cancer · 2014Article
- Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract.Journal of the American Academy of Dermatology · 2014Article
- Next generation diagnostic molecular pathology: critical appraisal of quality assurance in Europe.Molecular oncology · 2014Review
- Genetic profiling to determine risk of relapse-free survival in high-risk localized prostate cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2014Article
- Expression of FAP, ADAM12, WISP1, and SOX11 is heterogeneous in aggressive fibromatosis and spatially relates to the histologic features of tumor activity.Cancer medicine · 2014Article
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 3 institutions in 2 countries.
Funding
Abstract
There is an immediate and critical need for a rapid, broad-based genotyping method that can evaluate multiple mutations simultaneously in clinical cancer specimens and identify patients most likely to benefit from targeted agents now in use or in late-stage clinical development. We have implemented a prospective genotyping approach to characterize the frequency and spectrum of mutations amenable to drug targeting present in urothelial, colorectal, endometrioid, and thyroid carcinomas and in melanoma. Cancer patients were enrolled in a Personalized Cancer Medicine Registry that houses both clinical information and genotyping data, and mutation screening was performed using a multiplexed assay panel with mass spectrometry-based analysis to detect 390 mutations across 30 cancer genes. Formalin fixed, paraffin-embedded specimens were evaluated from 820 Registry patients. The genes most frequently mutated across multiple cancer types were BRAF, PIK3CA, KRAS, and NRAS. Less common mutations were also observed in AKT1, CTNNB1, FGFR2, FGFR3, GNAQ, HRAS, and MAP2K1. Notably, 48 of 77 PIK3CA-mutant cases (62%) harbored at least one additional mutation in another gene, most often KRAS. Among melanomas, only 54 of 73 BRAF mutations (74%) were the V600E substitution. These findings demonstrate the diversity and complexity of mutations in druggable targets among the different cancer types and underscore the need for a broad-spectrum, prospective genotyping approach to personalized cancer medicine.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.