ArticleHuman genomics2015
Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.
Article in Human genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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
21 citing papers in PubMed, 40 citations in OpenAlex.
- Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.PloS one · 2018Trial
- Multi-omics analysis identifies DLX4 as a novel biomarker for diagnosis, prognosis, and immune infiltration: from pan-cancer to renal cancer.Discover oncology · 2025Article
- PIK3CA somatic alterations in invasive breast cancers: different spectrum from Caucasians to Chinese detected by next generation sequencing.Breast cancer (Tokyo, Japan) · 2021Article
- Role of MALAT1 in gynecological cancers: Pathologic and therapeutic aspects.Oncology letters · 2021Review
- Landscape of clinically actionable mutations in breast cancer 'A cohort study'.Translational oncology · 2021Article
- IonCRAM: a reference-based compression tool for ion torrent sequence files.BMC bioinformatics · 2020Article
- Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.Journal of advanced research · 2020Article
- A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer.International journal of breast cancer · 2020Article
- The distinct clinicopathological and prognostic implications ofCancer management and research · 2019Article
- RETRACTED:Clinical cancer research : an official journal of the American Association for Cancer Research · 2018Article
- Cancer panel analysis of circulating tumor cells in patients with breast cancer.Oncology letters · 2018Article
- Validation of Ion TorrentGenes · 2018Article
- Isocitrate dehydrogenase 1-snail axis dysfunction significantly correlates with breast cancer prognosis and regulates cell invasion ability.Breast cancer research : BCR · 2018Article
- A simple and robust real-time qPCR method for the detection of PIK3CA mutations.Scientific reports · 2018Article
- Article
- Circulating-free DNA Mutation Associated with Response of Targeted Therapy in Human Epidermal Growth Factor Receptor 2-positive Metastatic Breast Cancer.Chinese medical journal · 2017Article
- Evaluation of PIK3CA mutations as a biomarker in Chinese breast carcinomas from Western China.Cancer biomarkers : section A of Disease markers · 2017Article
- Circulating tumor DNA detection in lung cancer patients before and after surgery.Scientific reports · 2016Article
- Circulating Tumor DNA Detection in Early-Stage Non-Small Cell Lung Cancer Patients by Targeted Sequencing.Scientific reports · 2016Article
- Mutation distributions and clinical correlations of PIK3CA gene mutations in breast cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 3 institutions in 2 countries.
Funding
Abstract
Breast cancer is the most common malignancy in women and the leading cause of cancer deaths in women worldwide. Breast cancers are heterogenous and exist in many different subtypes (luminal A, luminal B, triple negative, and human epidermal growth factor receptor 2 (HER2) overexpressing), and each subtype displays distinct characteristics, responses to treatment, and patient outcomes. In addition to varying immunohistochemical properties, each subtype contains a distinct gene mutation profile which has yet to be fully defined. Patient treatment is currently guided by hormone receptor status and HER2 expression, but accumulating evidence suggests that genetic mutations also influence drug responses and patient survival. Thus, identifying the unique gene mutation pattern in each breast cancer subtype will further improve personalized treatment and outcomes for breast cancer patients. In this study, we used the Ion Personal Genome Machine (PGM) and Ion Torrent AmpliSeq Cancer Panel to sequence 737 mutational hotspot regions from 45 cancer-related genes to identify genetic mutations in 80 breast cancer samples of various subtypes from Chinese patients. Analysis revealed frequent missense and combination mutations in PIK3CA and TP53, infrequent mutations in PTEN, and uncommon combination mutations in luminal-type cancers in other genes including BRAF, GNAS, IDH1, and KRAS. This study demonstrates the feasibility of using Ion Torrent sequencing technology to reliably detect gene mutations in a clinical setting in order to guide personalized drug treatments or combination therapies to ultimately target individual, breast cancer-specific mutations.
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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.