Gastric cancer is a highly heterogeneous disease and the second leading cause of cancer-associated mortality. However, the genomic basis of gastric cancer is not completely understood and the underlying genetic heterogeneity has not been well studied. In the present study, 1,021 genes were sequenced and the somatic mutations of 45 formalin-fixed, paraffin-embedded gastric adenocarcinoma samples were assessed using next-generation sequencing technologies. In the present study, a median sequencing coverage depth of 708-fold was achieved. Somatic genomic alterations were detected in 37/45 patients (82.4%) and the most frequent genetic alterations identified were tumor protein P53 (TP53) gene mutations. Mutations in MLL4, ERBB3, FBXW7, MLL3, MTOR, NOTCH1, PIK3CA, KRAS, ERBB4 and EGFR were also detected. Patients with TP53 mutations had a higher number of somatic mutations, and the total number of somatic mutations was weakly correlated with patient age. These results provided data on the intratumoral heterogeneity of gastric cancer and may be used in order to develop personalized cancer therapy.
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http://dx.doi.org/10.3892/ol.2018.9314 | DOI Listing |
Breast Cancer Res Treat
January 2025
Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian , China.
Purpose: Age stratification influences the clinicopathological features and survival outcomes of breast cancer. We aimed to understand the effect of age on gene variants in young Chinese women with breast cancer compared with those from The Cancer Genome Atlas (TCGA).
Methods: Enrolled patients ≤ 40 years old (N = 370) underwent germline or somatic genetic testing using a 32-gene hereditary cancer panel at Fujian Union Hospital.
BMJ Case Rep
January 2025
Rheumatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA
A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. His subacute lupus erythematosus (SCLE) was responsive to tofacitinib, but thrombotic complications limited the use of this medication.
View Article and Find Full Text PDFMutat Res
December 2024
School of Health Sciences and Technology, UPES, Dehradun, Uttarakhand 248007, India. Electronic address:
Gallbladder cancer (GBC) is an aggressive malignancy with a poor prognosis, often diagnosed at advanced stages due to subtle early symptoms. Recent studies have provided a comprehensive view of GBC's genetic and mutational landscape, uncovering crucial pathways involved in its pathogenesis. Environmental exposures, particularly to heavy metals, have been linked to elevated GBC risk.
View Article and Find Full Text PDFNat Med
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Department of Medicine, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.
Nearly all pancreatic adenocarcinomas (PDAC) are genomically characterized by KRAS exon 2 mutations. Most patients with PDAC present with advanced disease and are treated with cytotoxic therapy. Genomic biomarkers prognostic of disease outcomes have been challenging to identify.
View Article and Find Full Text PDFNat Genet
January 2025
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
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