ArticleJournal of translational medicine2012
Prevalence of KRAS, BRAF, and PIK3CA somatic mutations in patients with colorectal carcinoma may vary in the same population: clues from Sardinia.
Article in Journal of translational medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Analysis of PIK3CA mutation prevalence variation among colorectal cancer populations: a comprehensive review.Molecular biology reports · 2025Pooled it
- Biological factors driving colorectal cancer metastasis.World journal of gastrointestinal oncology · 2024Review
- Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.Journal of translational medicine · 2024Article
- Better understanding the phenotypic effects of drugs through shared targets in genetic disease networks.Frontiers in pharmacology · 2024Article
- Mutation Status and Prognostic Value of KRAS and BRAF in Southeast Iranian Colorectal Cancer Patients: First Report from Southeast of Iran.Journal of gastrointestinal cancer · 2021Article
- Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.Journal of translational medicine · 2019Article
- Molecular spectrum ofJournal of gastrointestinal oncology · 2016Article
- Prognostic impact of KRAS, NRAS, BRAF, and PIK3CA mutations in primary colorectal carcinomas: a population-based study.Journal of translational medicine · 2016Article
- Prognostic role ofOncology letters · 2016Article
- Observational
- K-ras Mutation in Colorectal Cancer, A Report from Southern Iran.Iranian journal of medical sciences · 2015Article
- Impact of tissue type and content of neoplastic cells of samples on the quality of epidermal growth factor receptor mutation analysis among patients with lung adenocarcinoma.Molecular medicine reports · 2015Article
- Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma.The Journal of investigative dermatology · 2015Article
- Activating PIK3CA mutations coexist with BRAF or NRAS mutations in a limited fraction of melanomas.Journal of translational medicine · 2015Article
- Article
- Molecular spectrum of KRAS, BRAF, and PIK3CA gene mutation: determination of frequency, distribution pattern in Indian colorectal carcinoma.Medical oncology (Northwood, London, England) · 2014Article
- KRAS mutations: variable incidences in a Brazilian cohort of 8,234 metastatic colorectal cancer patients.BMC gastroenterology · 2014Article
- Triple-negative breast cancer frequency and type ofOncology letters · 2014Article
- Pattern of clinically relevant mutations in consecutive series of Russian colorectal cancer patients.Medical oncology (Northwood, London, England) · 2013Article
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Authors and funding
26 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRole of KRAS, BRAF and PIK3CA mutations in pathogenesis of colorectal cancer (CRC) has been recently investigated worldwide. In this population-based study, we evaluated the incidence rates and distribution of such somatic mutations in genetically isolated population from Sardinia.
methodsFrom April 2009 to July 2011, formalin-fixed paraffin-embedded tissues (N = 478) were prospectively collected from Sardinian CRC patients at clinics across the entire island. Genomic DNA was isolated from tissue sections and screened for mutations in KRAS, BRAF, and PIK3CA genes by automated DNA sequencing.
resultsOverall, KRAS tumour mutation rate was 30% (145/478 positive cases). Distribution of mutation carriers was surprisingly different within the island: 87/204 (43%) in North Sardinia vs. 58/274 (21%) in Middle-South Sardinia (p<0.001). Among 384 CRC cases whose DNA was available, only one (0.3%) patient carried a mutation in BRAF gene; PIK3CA was found mutated in 67 (17%) patients. A significant inverse distribution of PIK3CA mutation rates was observed within Sardinian population: 19/183 (10%) cases from northern vs. 48/201 (24%) cases from central-southern island (p<0.001). This heterogeneity in frequencies of KRAS/PIK3CA somatic mutations is consistent with already-reported discrepancies in distribution of germline mutations for other malignancies within Sardinian population. Preliminary clinical evaluation of 118 KRAS wild-type patients undergoing anti-EGFR-based treatment indicated lack of role for PIK3CA in predicting response to therapy.
conclusionsOur findings support the hypothesis that differences in patients' origins and related genetic backgrounds may contribute to even determine the incidence rate of somatic mutations in candidate cancer genes.
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