Genetics, genomics and epigenetics
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Both p53 codon 72 Arg/Arg and pro/Arg genotypes in glioblastoma multiforme are associated with a better prognosis in bevacizumab treatment
It has previously been shown that bevacizumab, when added to chemotherapy, improved overall survival in several cancers. In glioblastoma multiforme (GBM), bevacizumab increased progression-free survival and it...BMC Cancer 2020 20:709Efficient mutation screening for cervical cancers from circulating tumor DNA in blood
Early diagnosis and continuous monitoring are necessary for an efficient management of cervical cancers (CC). Liquid biopsy, such as detecting circulating tumor DNA (ctDNA) from blood, is a simple, non-invasiv...BMC Cancer 2020 20:694A panel of DNA methylation signature from peripheral blood may predict colorectal cancer susceptibility
Differential DNA methylation panel derived from peripheral blood could serve as biomarkers of CRC susceptibility. However, most of the previous studies utilized post-diagnostic blood DNA which may be markers o...BMC Cancer 2020 20:692Detection of genes mutations in cerebrospinal fluid circulating tumor DNA from neoplastic meningitis patients using next generation sequencing
This study profiled the somatic genes mutations and the copy number variations (CNVs) in cerebrospinal fluid (CSF)-circulating tumor DNA (ctDNA) from patients with neoplastic meningitis (NM).BMC Cancer 2020 20:690Candidate methylation sites associated with endocrine therapy resistance in ER+/HER2- breast cancer
Estrogen receptor (ER) positive breast cancer is often effectively treated with drugs that inhibit ER signaling, i.e., tamoxifen (TAM) and aromatase inhibitors (AIs). However, 30% of ER+ breast cancer patients...BMC Cancer 2020 20:676LncRNA MEG3 rs3087918 was associated with a decreased breast cancer risk in a Chinese population: a case-control study
LncRNA MEG3 expressed abnormally in various cancers including breast cancer, but no studies reported the correlation between MEG3 SNPs and breast cancer susceptibility among Chinese women.BMC Cancer 2020 20:659Global targetome analysis reveals critical role of miR-29a in pancreatic stellate cell mediated regulation of PDAC tumor microenvironment
Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive forms of malignancies with a nearly equal incidence and mortality rates in patients. Pancreatic stellate cells (PSCs) are critical players ...BMC Cancer 2020 20:651DNA methylation signatures of Prostate Cancer in peripheral T-cells
Prostate Cancer (PCa) is the second most common cancer in men where advancements have been made for early detection using imaging techniques, however these are limited by lesion size. Immune surveillance has e...BMC Cancer 2020 20:588Overexpression of HOXA10 is associated with unfavorable prognosis of acute myeloid leukemia
HOXA family genes were crucial transcription factors involving cell proliferation and apoptosis. While few studies have focused on HOXA10 in AML. We aimed to investigate the prognostic significance of HOXA10.BMC Cancer 2020 20:586Immune-related genes in tumor-specific CD4+ and CD8+ T cells in colon cancer
Immune escape is an immunological mechanism underlying tumorigenesis, and T cells play an important role in this process. In this study, immune-related genes were evaluated in tumor-infiltrating CD4+ and CD8+ T c...BMC Cancer 2020 20:585Evaluation of adverse effects of chemotherapy regimens of 5-fluoropyrimidines derivatives and their association with DPYD polymorphisms in colorectal cancer patients
5-Fluorouracil (5-FU) and capecitabine are fluoropyrimidine derivatives that mainly metabolized with dihydropyrimidine dehydrogenase enzyme (DPD). The genetic polymorphism in the genes encoding this enzyme may...BMC Cancer 2020 20:560The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis.BMC Cancer 2020 20:516SCDb: an integrated database of stomach cancer
Stomach cancer (SC) is a type of cancer, which is derived from the stomach mucous membrane. As there are non-specific symptoms or no noticeable symptoms observed at the early stage, newly diagnosed SC cases us...BMC Cancer 2020 20:490MassARRAY analysis of twelve cancer related SNPs in esophageal squamous cell carcinoma in J&K, India
MassARRAY (Agena Bioscience™) combines competitive PCR with MALDI-TOF mass spectrometry (MS) analysis that gives highly accurate, sensitive, and high-throughput methods for the quantitative analysis of variati...BMC Cancer 2020 20:497CYP19A1 gene expression in the peripheral blood of Brazilian women with breast cancer relapse
The CYP19A1 gene, which encodes the enzyme responsible for androgen aromatization into estrogens, may play an important role in breast cancer aggressiveness. However, no study has evaluated CYP19A1 gene expressio...BMC Cancer 2020 20:480The prognostic value of IDO expression in solid tumors: a systematic review and meta-analysis
Indoleamine 2,3-dioxygenase (IDO) is a rate-limiting enzyme in the metabolism of tryptophan into kynurenine. It is considered to be an immunosuppressive molecule that plays an important role in the development...BMC Cancer 2020 20:471Association of Helicobacter pylori babA2 gene and gastric cancer risk: a meta-analysis
The association of Helicobacter pylori (H. pylori) babA2 gene with gastric cancer (GC) was reported by several studies, but results were inconsistent. This meta-analysis was performed to investigate the relations...BMC Cancer 2020 20:465A novel risk score model based on eight genes and a nomogram for predicting overall survival of patients with osteosarcoma
This study aims to identify a predictive model to predict survival outcomes of osteosarcoma (OS) patients.BMC Cancer 2020 20:456Different regulation of PARP1, PARP2, PARP3 and TRPM2 genes expression in acute myeloid leukemia cells
Acute myeloid leukemia (AML) is a heterogenic lethal disorder characterized by the accumulation of abnormal myeloid progenitor cells in the bone marrow which results in hematopoietic failure. Despite various e...BMC Cancer 2020 20:435Dynamic alterations of genome and transcriptome in KRAS G13D mutant CRC PDX model treated with cetuximab
KRAS mutations have been characterized as the major predictive biomarkers for resistance to cetuximab treatment. However, studies indicate that not all KRAS mutations are associated with equivalent treatment o...BMC Cancer 2020 20:416Gene networks and expression quantitative trait loci associated with adjuvant chemotherapy response in high-grade serous ovarian cancer
A major impediment in the treatment of ovarian cancer is the relapse of chemotherapy-resistant tumors, which occurs in approximately 25% of patients. A better understanding of the biological mechanisms underly...BMC Cancer 2020 20:413Association of DNA repair gene variants with colorectal cancer: risk, toxicity, and survival
Single nucleotide polymorphisms (SNPs) in DNA repair genes have a potential clinical value in predicting treatment outcomes. In the current study, we examined the association of SNPs in the genes XRCC1-rs25487...BMC Cancer 2020 20:409Knowledge-based analyses reveal new candidate genes associated with risk of hepatitis B virus related hepatocellular carcinoma
Recent genome-wide association studies (GWASs) have suggested several susceptibility loci of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) by statistical analysis at individual single-nucleoti...BMC Cancer 2020 20:403Colorectal carcinomas with mucinous differentiation are associated with high frequent mutation of KRAS or BRAF mutations, irrespective of quantity of mucinous component
Mucinous adenocarcinoma (MAC) is a distinct type of colorectal cancer (CRC) associated with poor response to treatment and poorer prognosis. MAC is diagnosed by WHO definition when the extracellular mucin is m...BMC Cancer 2020 20:400The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
Pathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, n...BMC Cancer 2020 20:391Construction of an integrated human osteosarcoma database, HOsDb, based on literature mining, microarray analysis, and database retrieval
Osteosarcoma (OS) is the most frequent primary malignancy of bone with a high incidence in adolescence. This study aimed to construct a publicly available, integrated database of human OS, named HOsDb.BMC Cancer 2020 20:390Metastatic breast cancer patient perceptions of somatic tumor genomic testing
To assess metastatic breast cancer (MBC) patient psychological factors, perceptions, and comprehension of tumor genomic testing.BMC Cancer 2020 20:389Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei
Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter ...BMC Cancer 2020 20:369Polymorphisms in endoplasmic reticulum aminopeptidase genes are associated with cervical cancer risk in a Chinese Han population
Antigen-processing machinery molecules play crucial roles in infectious diseases and cancers. Studies have shown that polymorphisms in endoplasmic reticulum aminopeptidase (ERAP) genes can influence the enzyma...BMC Cancer 2020 20:341Microarray data analysis on gene and miRNA expression to identify biomarkers in non-small cell lung cancer
The aim of this study was to gain further investigation of non-small cell lung cancer (NSCLC) tumorigenesis and identify biomarkers for clinical management of patients through comprehensive bioinformatics anal...BMC Cancer 2020 20:3293’UTR polymorphism of Thymidylate Synthase gene increased the risk of persistence of pre-neoplastic cervical lesions
Cervical cancer is caused by high-risk Human Papillomavirus (hr-HPV) infection associated with cofactors that has been analyzed as predictors of the remission or persistence of cytological abnormalities remiss...BMC Cancer 2020 20:323The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10
Circular RNAs (CircRNAs) are biologically active RNAs. CDR1as is one such circRNA previously reported to be a microRNA-7 (miR-7) sponge, thereby regulating associated gene expression. The specific underlying m...BMC Cancer 2020 20:312RIPK1 polymorphisms alter the susceptibility to cervical Cancer among the Uyghur population in China
RIPK1 (receptor-interacting protein kinase-1) plays a role in cancer development, whereas no clear studies focused on the cervical cancer. The objective of this study was to evaluate the relationship between RIPK...BMC Cancer 2020 20:299Screening differentially expressed genes of pancreatic cancer between Mongolian and Han people using bioinformatics technology
To screen and analyze differentially expressed genes in pancreatic carcinoma tissues taken from Mongolian and Han patients by Affymetrix Genechip. Methods: Pancreatic ductal cell carcinoma tissues were collect...BMC Cancer 2020 20:298Sequential analysis of transcript expression patterns improves survival prediction in multiple cancers
Long-term survival in numerous cancers often correlates with specific whole transcriptome profiles or the expression patterns of smaller numbers of transcripts. In some instances, these are better predictors o...BMC Cancer 2020 20:297Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material
Sensitive and reliable molecular diagnostics is needed to guide therapeutic decisions for cancer patients. Although less material becomes available for testing, genetic markers are rapidly expanding. Simultane...BMC Cancer 2020 20:291The DNA hypermethylation phenotype of colorectal cancer liver metastases resembles that of the primary colorectal cancers
Identifying molecular differences between primary and metastatic colorectal cancers—now possible with the aid of omics technologies—can improve our understanding of the biological mechanisms of cancer progress...BMC Cancer 2020 20:290Landscape of copy number aberrations in esophageal squamous cell carcinoma from a high endemic region of South Africa
Esophageal squamous cell carcinoma (ESCC) is an aggressive cancer with one of the highest world incidences in the Eastern Cape region of South Africa. Several genome wide studies have been performed on ESCC co...BMC Cancer 2020 20:281In silico analysis of the immune microenvironment in bladder cancer
Infiltrating immune and stromal cells are vital components of the bladder cancer (BC) microenvironment, which can significantly affect BC progression and outcome. However, the contribution of each subset of tu...BMC Cancer 2020 20:265The A818–6 system as an in-vitro model for studying the role of the transportome in pancreatic cancer
The human pancreatic cancer cell line A818–6 can be grown in vitro either as a highly malignant, undifferentiated monolayer (ML) or as three-dimensional (3D) single layer hollow spheres (HS) simulating a benig...BMC Cancer 2020 20:264RNAseq expression patterns of canine invasive urothelial carcinoma reveal two distinct tumor clusters and shared regions of dysregulation with human bladder tumors
Invasive urothelial carcinoma (iUC) is highly similar between dogs and humans in terms of pathologic presentation, molecular subtypes, response to treatment and age at onset. Thus, the dog is an established an...BMC Cancer 2020 20:251MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia
Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. Here a case-control study ...BMC Cancer 2020 20:234Evaluation of NID2 promoter methylation for screening of Oral squamous cell carcinoma
Oral squamous cell carcinoma (OSCC) is an aggressive human malignancy. Because of late diagnosis and recurrence of OSCC, the treatment of patients with OSCC is often ineffective. Thus, finding novel biomarkers...BMC Cancer 2020 20:218Polyclonal BRCA2 mutations following carboplatin treatment confer resistance to the PARP inhibitor rucaparib in a patient with mCRPC: a case report
Poly (ADP-ribose) polymerase (PARP) inhibitors are approved for the treatment of breast cancer susceptibility genes 1 and 2 (BRCA1/2) mutant ovarian and breast cancers, and are now being evaluated in metastatic c...BMC Cancer 2020 20:215Genetic mutational analysis of pediatric acute lymphoblastic leukemia from a single center in China using exon sequencing
Acute lymphoblastic leukemia (ALL), the most common childhood malignancy, is characterized by recurring structural chromosomal alterations and genetic alterations, whose detection is critical in diagnosis, ris...BMC Cancer 2020 20:211Identification of immune cells and mRNA associated with prognosis of gastric cancer
The clinical success demonstrates the enormous potential of immunotherapy in cancer treatment.BMC Cancer 2020 20:206A distinct molecular mutational profile and its clinical impact in essential thrombocythemia and primary myelofibrosis patients
Classical MPNs including ET and PMF have a chronic course and potential for leukaemic transformation. Timely diagnosis is obligatory to ensure appropriate management and positive outcomes. The aim of this stud...BMC Cancer 2020 20:205Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer
Poly (ADP-ribose) polymerase inhibitors targeting BRCA1/2 mutations are available for treating patients with high-grade serous ovarian cancer. These treatments may be more appropriately directed to patients who m...BMC Cancer 2020 20:204Identification of potential novel biomarkers to differentiate malignant thyroid nodules with cytological indeterminate
The fine-needle aspiration (FNA) biopsy was broadly applied to clinical diagnostics evaluation for thyroid carcinomas nodule, while companioning with higher uncertainty rate (15~30%) to identify malignancy for...BMC Cancer 2020 20:199An immune-centric exploration of BRCA1 and BRCA2 germline mutation related breast and ovarian cancers
BRCA1/2 germline mutation related cancers are candidates for new immune therapeutic interventions. This study was a hypothesis generating exploration of genomic data collected at diagnosis for 19 patients. The...BMC Cancer 2020 20:197
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