ArticleOncotarget2017
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer-Predisposing Factors in Familial Early-Onset Colorectal Cancer.The Kaohsiung journal of medical sciences · 2026Article
- Association betweenIranian journal of public health · 2025Review
- The safety and prognosis of radical surgery in colorectal cancer patients over 80 years old.BMC surgery · 2023Article
- Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.Frontiers in oncology · 2023Article
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.Biomedical journal · 2022Observational
- TP53, SPOP and PIK3CA Genes Status in Prostate Cancer.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single lynch syndrome patient.Scientific reports · 2020Article
- Altered ARID1A expression in colorectal cancer.BMC cancer · 2020Article
- Actionable Potentials of Less Frequently Mutated Genes in Colorectal Cancer and Their Roles in Precision Medicine.Biomolecules · 2020Review
- Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.International medical case reports journal · 2020Article
- Novel Alternatively Spliced Variants of Smad4 Expressed in TGF-β-Induced EMT Regulating Proliferation and Migration of A549 Cells.OncoTargets and therapy · 2020Article
- Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.Cancer medicine · 2019Article
- Genetics and genomic medicine in Iran.Molecular genetics & genomic medicine · 2019Article
- Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing.F1000Research · 2019Article
- Article
- Distribution of KRAS, DDR2, and TP53 gene mutations in lung cancer: An analysis of Iranian patients.PloS one · 2018Article
- Next-generation sequencing: recent applications to the analysis of colorectal cancer.Journal of translational medicine · 2017Review
- Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.Oncotarget · 2017Article
- Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.Differentiation; research in biological diversityArticle
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Authors and funding
7 authors.
Funding
Abstract
purposeNext Generation Sequencing (NGS) is currently used to establish mutational profiles in many multigene diseases such as colorectal cancer (CRC), which is on the rise in many parts of the developing World including, Iran. Little is known about its genetic hallmarks in these populations.
aimTo identify variants in 15 CRC-associated genes in patients of Iranian descent.
resultsThere were 51 validated variants distributed on 12 genes: 22% MSH3 (n = 11/51), 10% MSH6 (n = 5/51), 8% AMER1 (n = 4/51), 20% APC (n = 10/51), 2% BRAF (n = 1/51), 2% KRAS (n = 1/51), 12% PIK3CA (n = 6/51), 8% TGFβR2A (n = 4/51), 2% SMAD4 (n = 1/51), 4% SOX9 (n = 2/51), 6% TCF7L2 (n = 3/51), and 6% TP53 (n = 3/51). Most known and distinct variants were in mismatch repair genes (MMR, 32%) and APC (20%). Among oncogenes, PIK3CA was the top target (12%). MATERIALS AND
methodsCRC specimens from 63 Shirazi patients were used to establish the variant' profile on an Ion Torrent platform by targeted exome sequencing. To rule-out technical artifacts, the variants were validated in 13 of these samples using an Illumina NGS platform. Validated variants were annotated and compared to variants from publically available databases. An in-silico functional analysis was performed. MSI status of the analyzed samples was established.
conclusionThese results illustrate for the first time CRC mutational profile in Iranian patients. MSH3, MSH6, APC and PIK3CA genes seem to play a bigger role in the path to cancer in this population. These findings will potentially lead to informed genetic diagnosis protocol and targeted therapeutic strategies.
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