Circulating cell-free DNA integrity as a diagnostic and prognostic marker for breast and prostate cancers
ConclusionALU species 115 and 247 levels in serum were elevated in breast and prostate cancer patients compared to their counterpart healthy controls. DNA integrity was higher in prostate cancer patients than the control but in breast cancer patients was lower compared to their controls. In prostate but not in breast cancers, DNA integrity increased with disease severity and higher staging. (Source: Cancer Genetics)
Source: Cancer Genetics - April 23, 2019 Category: Cancer & Oncology Source Type: research
Aberrant methylation status of SPG20 promoter in Hepatocellular Carcinoma: a potential tumor metastasis biomarker
ConclusionThe hypermethylation status of SPG20 gene promoter is significantly associated with intra-hepatic metastasis and contribute to HCC metastasis. (Source: Cancer Genetics)
Source: Cancer Genetics - April 13, 2019 Category: Cancer & Oncology Source Type: research
A comparison of survival analysis methods for cancer gene expression RNA-Sequencing data
Publication date: Available online 12 April 2019Source: Cancer GeneticsAuthor(s): Pichai Raman, Samuel Zimmerman, Komal S. Rathi, Laurence de Torrenté, Mahdi Sarmady, Chao Wu, Jeremy Leipzig, Deanne M. Taylor, Aydin Tozeren, Jessica C. MarAbstractIdentifying genetic biomarkers of patient survival remains a major goal of large-scale cancer profiling studies. Using gene expression data to predict the outcome of a patient's tumor makes biomarker discovery a compelling tool for improving patient care. As genomic technologies expand, multiple data types may serve as informative biomarkers, and bioinformatic strategies have evo...
Source: Cancer Genetics - April 13, 2019 Category: Cancer & Oncology Source Type: research
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing
Publication date: Available online 13 April 2019Source: Cancer GeneticsAuthor(s): Thomas P. Slavin, Bradford Coffee, Ryan Bernhisel, Jennifer Logan, Hannah C. Cox, Guido Marcucci, Jeffrey Weitzel, Susan L. Neuhausen, Debora Mancini-DiNardoABSTRACTNext-generation sequencing (NGS) hereditary pan-cancer panel testing can identify somatic variants, which exhibit lower allele frequencies than do germline variants and may confound hereditary cancer predisposition testing. This analysis examined the prevalence and characteristics of likely-somatic variants among 348,543 individuals tested using a clinical NGS hereditary pan-cance...
Source: Cancer Genetics - April 13, 2019 Category: Cancer & Oncology Source Type: research
PIP4K2A and PIP4K2C transcript levels are associated with cytogenetic risk and survival outcomes in acute myeloid leukemia
Publication date: Available online 11 April 2019Source: Cancer GeneticsAuthor(s): Keli Lima, Juan Luiz Coelho-Silva, Gabriela Sarti Kinker, Diego Antonio Pereira-Martins, Fabiola Traina, Pedro Augusto Carlos Magno Fernandes, Regina Pekelmann Markus, Antonio Roberto Lucena-Araujo, João Agostinho Machado-NetoAbstractPhosphoinositide signaling pathway orchestrates primordial molecular and cellular functions in both healthy and pathologic conditions. Phosphatidylinositol-5-phosphate 4-kinase type 2 lipid kinase (PIP4K2) family, which compromises PIP4K2A, PIP4K2B and PIP4K2C, has drawn the attention in human cancers. Particula...
Source: Cancer Genetics - April 12, 2019 Category: Cancer & Oncology Source Type: research
Prognostic significance of CDC25C in lung adenocarcinoma: an analysis of TCGA data
ConclusionsCDC25C predicts poor prognosis in LUAD and may function in cell cycle regulation and FAS-mediated apoptosis. (Source: Cancer Genetics)
Source: Cancer Genetics - April 10, 2019 Category: Cancer & Oncology Source Type: research
PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications
Publication date: Available online 26 March 2019Source: Cancer GeneticsAuthor(s): Avi Saskin, Kimberly Seath, Frederique Tihy, Emmanuelle Lemyre, Jeffrey Davis, Fahed Halal, Linlea ArmstrongAbstractEwing sarcoma (ES), a common pediatric primary bone neoplasm, has a well-defined genomic landscape with various predisposing genomic elements including TP53, PMS2 and RET. Additionally, germline and somatic variants in protein tyrosine phosphatase delta (PTPRD), a tumor suppressor gene, have been identified in a limited number of ES patients. Here we present an ES patient, remarkable in terms of his young age and extent at prese...
Source: Cancer Genetics - March 27, 2019 Category: Cancer & Oncology Source Type: research
The Benefits of A Model of Interval Comprehensive Assessments (MICA) in Hereditary Cancer Syndromes: Hereditary Diffuse Gastric Cancer (HDGC) as an Example
Publication date: Available online 25 March 2019Source: Cancer GeneticsAuthor(s): Henry T. Lynch, Rosemary Nustas, Thamer Kassim, Carrie Snyder, Trudy Shaw, Osama DiabAbstractA high percentage of individuals at risk for hereditary cancer syndromes are unaware of their risk. This is especially detrimental in syndromes such as hereditary diffuse gastric cancer due to a CDH1 germline mutation, for which lifesaving prevention is possible. Surveillance for diffuse gastric cancer in the syndrome is limited, hence the recommendation for prophylactic total gastrectomy for mutation carriers. Genetic counseling and testing is crucia...
Source: Cancer Genetics - March 26, 2019 Category: Cancer & Oncology Source Type: research
Corrigendum to “The cancer COMPASS: Navigating the functions of MLL complexes in cancer” [Cancer Genetics 208 (2015) pp. 178–191]
Publication date: Available online 21 March 2019Source: Cancer GeneticsAuthor(s): David J. Ford, Andrew K. Dingwall (Source: Cancer Genetics)
Source: Cancer Genetics - March 21, 2019 Category: Cancer & Oncology Source Type: research
Deciphering the Complexities of MECOM Rearrangement-Driven Chromosomal Aberrations
This study presented 129 cases with confirmed MECOM rearrangement by karyotyping and multiple FISH methodologies. MECOM rearrangement arose through translocation (49.6%, n=64), inversion (40.3%, n=52), insertion (5.4%, n=7) or unknown mechanism(s) (4.7%, n=6). The classic inv(3)(q21q26.2) was dominant (n=50) in inversion-driven MECOM rearrangement; and 3 of them also had double inv(3). For translocation-driven MECOM rearrangement, t(3;21) was most common (n=15), followed by t(2;3) (n=13), t(3;12) (n=10), t(3;3) (n=9), t(3;8) (n=6), t(3;6) and t(3;17) (n=4 each), t(1;3) and t(3;?) (n=1 each). Cases with t(3;3)-, t(3;12)-, a...
Source: Cancer Genetics - March 12, 2019 Category: Cancer & Oncology Source Type: research
Evaluating Gene Fusions in Solid Tumors – Clinical experience using an RNA based 53 gene next-generation sequencing panel
Publication date: Available online 7 March 2019Source: Cancer GeneticsAuthor(s): Pavalan Selvam, Kevin Kelly, Andrew N Hesse, Dan Spitzer, Honey V ReddiAbstractGiven the known association of gene fusions with solid tumor morbidity and the need to clarify the role of fusions in therapeutic, prognostic and diagnostic outcomes, we reviewed the positive yield rate for fusions in solid tumors using cases that were referred to our laboratory for clinical testing. We retrospectively evaluated results from 183 solid tumor samples that were received during a 24 month period for testing using the FusionSeqTM assay, an RNA-based Next...
Source: Cancer Genetics - March 9, 2019 Category: Cancer & Oncology Source Type: research
Mutagenic players in ALL progression and their associated signaling pathways
Publication date: Available online 7 March 2019Source: Cancer GeneticsAuthor(s): Saadiya Zia, Ramla ShahidAbstractAn alarming increase in acute lymphoblastic leukemia among children and males has drawn attention of investigators to delve into the genetic causes of ALL and to discover new therapeutic strategies with better prognosis. Although the survival rate in children is much higher than adults, but there's a need to find new potential molecular targets with better treatment outcome. Genomic profiling has made it possible to identify various genetic defects important for driving leukemogenesis. Study of the genetic lesi...
Source: Cancer Genetics - March 7, 2019 Category: Cancer & Oncology Source Type: research
A Familial Germline Mutation in KIT Associated with Achalasia, Mastocytosis and Gastrointestinal Stromal Tumors Shows Response to Kinase Inhibitors
We describe a unique germline mutation in in the extracellular domain encoded by exon 9 of KIT which leads to receptor activation resulting in achalasia, mastocytosis, and GIST in a family. Initial data suggests that this activation can be suppressed by kinase inhibitors. (Source: Cancer Genetics)
Source: Cancer Genetics - February 27, 2019 Category: Cancer & Oncology Source Type: research
Editorial Board
Publication date: February 2019Source: Cancer Genetics, Volumes 231–232Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - February 23, 2019 Category: Cancer & Oncology Source Type: research
Maintaining a methods database to optimize solid tumor tissue culture: Review of a 15-year database from a single institution.
Publication date: Available online 2 February 2019Source: Cancer GeneticsAuthor(s): Scott C. Smith, Lisa M. Warren, Linda D. CooleyAbstractChromosome analysis of solid tumors provides valuable information for diagnosis and patient management, yet successfully culturing solid tumors can be challenging. The Children's Mercy (CM) Cytogenetics laboratory has compiled a database of 1371 non-lymphoma solid tumors cultured since 2002. Analysis of the tumor culture data found a culture success rate of 91.6%. Abnormal karyotypes were identified in 47.0% of these tumors. A quality improvement project reviewed the database for method...
Source: Cancer Genetics - February 2, 2019 Category: Cancer & Oncology Source Type: research
