Non-invasive genotyping of metastatic colorectal cancer using circulating cell free DNA
Publication date: Available online 12 June 2019Source: Cancer GeneticsAuthor(s): Xuemei Shi, Dzifa Y. Duose, Meenakshi Mehrotra, Michael A. Harmon, Peter Hu, Ignacio I. Wistuba, Scott Kopetz, Rajyalakshmi LuthraABSTRACTCirculating cell-free DNA (ccfDNA) in plasma provides an easily accessible source of circulating tumor DNA (ctDNA) for detecting actionable genomic alterations that can be used to guide colorectal cancer (CRC) treatment and surveillance. The goal of this study was to test the feasibility of using a traditional amplicon-based next-generation sequencing (NGS) on Ion Torrent platform to detect low-frequency all...
Source: Cancer Genetics - June 12, 2019 Category: Cancer & Oncology Source Type: research
Expression deregulation of DNA repair pathway genes in gastric cancer
This study was designed to check correlation of mRNA and protein expression of BER pathway genes(XRCC1, OGG1) and a proliferation marker (Ki-67) in 100 gastric tissue samples and controls (adjacent uninvolved area). The expression was estimated using real time PCR and immunohistochemistry. Genomic instability was also calculated in the same study cohort using 8-OHdG assay, DNA fragmentation assay and comet assay. A significant downregulation of XRCC1 (p< 0.0001) and OGG1 (p<0.0001) expression was observed in gastric cancer tumors vs controls. When analyzed with spearman correlation, significant positive correlation...
Source: Cancer Genetics - June 12, 2019 Category: Cancer & Oncology Source Type: research
PD-L1 gene copy number and promoter polymorphisms regulate PD-L1 expression in tumor cells of non-small cell lung cancer patients
Publication date: Available online 8 June 2019Source: Cancer GeneticsAuthor(s): Paweł Krawczyk, Anna Grenda, Kamila Wojas-Krawczyk, Marcin Nicoś, Tomasz Kucharczyk, Bożena Jarosz, Katarzyna Reszka, Juliusz Pankowski, Kinga Krukowska, Aleksandra Bożyk, Justyna Szumiło, Marek Sawicki, Tomasz Trojanowski, Janusz MilanowskiAbstractMost drugs targeting PD-1 or PD-L1 are more effective when cancer cells of non-small cell lung cancer (NSCLC) patients express PD-L1 protein. The polymorphisms of PD-L1 gene and PD-L1 gene copy number could be responsible for PD-L1 mRNA and protein expression.We analyzed PD-L1 protein expression...
Source: Cancer Genetics - June 8, 2019 Category: Cancer & Oncology Source Type: research
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients
Publication date: Available online 6 June 2019Source: Cancer GeneticsAuthor(s): Cristina Fortuno, Tina Pesaran, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, Pik Fang Kho, Paul A. James, Amanda B. SpurdleABSTRACTTP53 pathogenic germline variation is associated with the multi-cancer predisposition Li-Fraumeni syndrome (LFS). Next-generation sequencing and multigene panel testing are highlighting variability in the clinical presentation of patients with TP53 positive results. We aimed to investigate if the p53 variants considered as major hotspots at both germline and somatic levels (p.Arg175His, p.Gly245Asp, p.Gly245Ser, p....
Source: Cancer Genetics - June 7, 2019 Category: Cancer & Oncology Source Type: research
Association of Transcriptional Levels of Folate-Mediated One-Carbon Metabolism-Related Genes in Cancer Cell Lines with Drug Treatment Response
Publication date: Available online 5 June 2019Source: Cancer GeneticsAuthor(s): Dong-Joon Min, Suleyman Vural, Julia KrushkalAbstractFolate-mediated one-carbon metabolism is essential for growth and survival of cancer cells. We investigated whether the response of cancer cells to antitumor treatment may be partially influenced by variation in expression of one-carbon metabolism genes. We used cancer cell line information from the Cancer Cell Line Encyclopedia and the Genomics of Drug Sensitivity in Cancer resources to examine whether variation in pretreatment expression of one-carbon metabolism-related genes was associated...
Source: Cancer Genetics - June 5, 2019 Category: Cancer & Oncology Source Type: research
Down-regulation of STIP1 regulate apoptosis and invasion of glioma cells via TRAP1/AKT signaling pathway
ConclusionsSTIP1 is highly expressed in glioblastoma compared to normal brain tissues. Downregulation of STIP1 in glioma cells reduces cell proliferation rate and invasion and increases cell apoptosis. (Source: Cancer Genetics)
Source: Cancer Genetics - June 4, 2019 Category: Cancer & Oncology Source Type: research
Classic bladder exstrophy and adenocarcinoma of the bladder: methylome analysis provide no evidence for underlying disease-mechanisms of this association
Publication date: Available online 31 May 2019Source: Cancer GeneticsAuthor(s): Amit Sharma, Holger Fröhlich, Rong Zhang, Anne-Karoline Ebert, Wolfgang Rösch, Henning Reis, Glen Kristiansen, Jörg Ellinger, Heiko ReutterAbstractThe bladder exstrophy-epispadias complex (BEEC) represents the severe end of uro-rectal malformation spectrum involving aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). Long-term complications in CBE are malignancies of the bladder with 95% of them being adenocarcinomas. Since CBE and adenoc...
Source: Cancer Genetics - June 1, 2019 Category: Cancer & Oncology Source Type: research
A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome
We report a BRCA negative family with multiple affected women having breast cancer, with a novel, missense, likely pathogenic variant in the CHEK2 gene (c.1376T>G; p.Ile459Ser) that segregated with subjects with breast cancer. This case provides insight into the role of the CHEK2 gene in causing breast cancer susceptibility in families and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer. (Source: Cancer Genetics)
Source: Cancer Genetics - June 1, 2019 Category: Cancer & Oncology Source Type: research
Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome
Publication date: Available online 18 May 2019Source: Cancer GeneticsAuthor(s): Roberto Antonucci, Nadia Vacca, Elisa Ghisu, Gloria Acquaviva, Carlo Cosmi, Anna Maria Marinaro, Cristian Locci, Claudio FozzaAbstractIsodicentric chromosome 15, also called idic(15), is a rare chromosomal abnormality resulting from inverted duplication of proximal 15q. It is associated with specific clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Herein we describe a case of a girl with idic(15) syndrome who developed acute lymphoblastic leukemia (ALL) at th...
Source: Cancer Genetics - May 20, 2019 Category: Cancer & Oncology Source Type: research
Editorial Board
Publication date: April 2019Source: Cancer Genetics, Volumes 233–234Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - May 18, 2019 Category: Cancer & Oncology Source Type: research
FANCM, RAD1, CHEK1 and TP53I3 act as BRCA-like tumor suppressors and are mutated in hereditary ovarian cancer
Publication date: Available online 9 May 2019Source: Cancer GeneticsAuthor(s): Jaime L. Lopes, Sophia Chaudhry, Guilherme S. Lopes, Nancy K. Levin, Michael A. TainskyAbstractAlthough 25% of ovarian cancer cases are due to inherited factors, most of the genetic risk remains unexplained. We previously identified candidate genes through germline whole exome sequencing of BRCA1/BRCA2 negative ovarian cancer patients with familial risk. Here, we performed functional assessment to determine whether they act as BRCA-like tumor suppressors.Seven candidate risk genes were targeted by siRNA for mRNA depletion followed by functional ...
Source: Cancer Genetics - May 11, 2019 Category: Cancer & Oncology Source Type: research
Somatic Mutation Panels: Time to clear their names
Publication date: Available online 26 April 2019Source: Cancer GeneticsAuthor(s): Amy M. Trottier, Marcela Cavalcante de Andrade Silva, Zejuan Li, Lucy A. GodleyAbstractWith improvements in DNA sequencing technologies and the consequent reduction in costs, next generation sequencing is being utilized increasingly in panel-based testing to perform molecular profiling of tumors. Such tumor-based panels are often referred to as ‘somatic’ panels, but this term is misleading and should not be used, since not all DNA variants within a tumor are somatic in nature. Every cell in a person's body contains that person's germline ...
Source: Cancer Genetics - April 27, 2019 Category: Cancer & Oncology Source Type: research
Outcomes of Disease-Specific Next-Generation Sequencing Gene Panel Testing in Adolescents and Young Adults with Colorectal Cancer
ConclusionHereditary syndromes were identified in 29.4% of patients. Panel testing in patients without a phenotype did not increase diagnostic yield, but identified variants in one-third. Disease-specific panel testing is of low yield in young patients without a suggestive personal/family history. Testing broader panels may increase the yield of mutation pick-up in this population, although at the expense of identifying variants. (Source: Cancer Genetics)
Source: Cancer Genetics - April 27, 2019 Category: Cancer & Oncology Source Type: research
Retrotransposon Elements among Initial Sites of Hepatitis B Virus Integration into Human Genome in the HepG2-NTCP Cell Infection Model
We examined the time-frame and host sites at which HBV integrates in HepG2 cells overexpressing sodium taurocholate co-transporting polypeptide (NTCP) receptor mediating HBV entry. HepG2-NTCP cells were analyzed from 15 min to 13 days post-infection (p.i.). The results showed that except for 15 min p.i., HBV-host integrations were detected at all time points thereafter. At 30 min p.i., virus junctions with retrotransposon SINE and with neuroblastoma breakpoint family member 1 gene were detected. At one-hour p.i., HBV integration with retrotransposon THE-1B-LTR was identified, while virus insertions into proline-rich protei...
Source: Cancer Genetics - April 25, 2019 Category: Cancer & Oncology Source Type: research
Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population
ConclusionsIn a multiethnic population, a significant proportion met family history criteria for BRCA1/2 testing, but uptake of genetic testing was low. Such underutilization of BRCA1/2 genetic testing among minorities further underscores the need to develop programs to engage high-risk women from underrepresented populations in genetic testing services. (Source: Cancer Genetics)
Source: Cancer Genetics - April 25, 2019 Category: Cancer & Oncology Source Type: research
