ArticleCancer2015
Identification of novel mutations by exome sequencing in African American colorectal cancer patients.
Article in Cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Racial disparities in colorectal cancer clinicopathological and molecular tumor characteristics: a systematic review.Cancer causes & control : CCC · 2024Pooled it
- Artificial Intelligence-Guided Analysis of WNT Pathway Alterations: Associations with Genomic Burden and Survival Across African American and Non-Hispanic White Populations, Age Groups, and FOLFOX Treatment in Colorectal Cancer.International journal of molecular sciences · 2026Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- African Ancestry-Associated Gene Expression Profiles in Triple-Negative Breast Cancer Underlie Altered Tumor Biology and Clinical Outcome in Women of African Descent.Cancer discovery · 2022Article
- Left-sided colorectal cancer distinct in indigenous African patients compared to other ethnic groups in South Africa.BMC cancer · 2022Article
- Microbiome and colorectal carcinogenesis: Linked mechanisms and racial differences.World journal of gastrointestinal oncology · 2022Review
- Article
- Decreased copy-neutral loss of heterozygosity in African American colorectal cancers.Genes, chromosomes & cancer · 2020Article
- The somatic mutation landscape of Chinese Colorectal Cancer.Journal of Cancer · 2020Article
- Global burden of colorectal cancer: emerging trends, risk factors and prevention strategies.Nature reviews. Gastroenterology & hepatology · 2019Review
- Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.Cancers · 2019Article
- Driver genes exome sequencing reveals distinct variants in African Americans with colorectal neoplasia.Oncotarget · 2019Article
- Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.Molecular genetics & genomic medicine · 2019Article
- Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China.Molecular medicine reports · 2018Article
- Colorectal Cancer Disparity in African Americans: Risk Factors and Carcinogenic Mechanisms.The American journal of pathology · 2018Review
- Global Inequities in Precision Medicine and Molecular Cancer Research.Frontiers in oncology · 2018Review
- Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.Oncotarget · 2017Article
- Racial Disparity in Gastrointestinal Cancer Risk.Gastroenterology · 2017Review
- Somatic Mutations in Prostate Cancer: Closer to Personalized Medicine.Molecular diagnosis & therapy · 2017Review
- Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
backgroundThe purpose of this study was to identify genome-wide single nucleotide variants and mutations in African American patients with colorectal cancer (CRC). There is a need of such studies in African Americans, because they display a higher incidence of aggressive CRC tumors.
methodsWe performed whole exome sequencing (WES) on DNA from 12 normal/tumor pairs of African American CRC patient tissues. Data analysis was performed using the software package GATK (Genome Analysis Tool Kit). Normative population databases (eg, 1000 Genomes SNP database, dbSNP, and HapMap) were used for comparison. Variants were annotated using analysis of variance and were validated via Sanger sequencing.
resultsWe identified somatic mutations in genes that are known targets in CRC such as APC, BRAF, KRAS, and PIK3CA. We detected novel alterations in the Wnt pathway gene, APC, within its exon 15, of which mutations are highly associated with CRC.
conclusionsThis WES study in African American patients with CRC provides insight into the identification of novel somatic mutations in APC. Our data suggest an association between specific mutations in the Wnt signaling pathway and an increased risk of CRC. The analysis of the pathogenicity of these novel variants may shed light on the aggressive nature of CRC in African Americans.
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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.