STK11 Gene Analysis Reveals a Significant Number of Splice Mutations in Chinese PJS Patients
ConclusionThe strategy achieved a high detection rate in Chinese people, validating its effectiveness. This cohort comprised a significantly higher proportion of splicing errors, reflecting the unique genetic characteristics Chinese people. No specific genotype-phenotype relationship was noted, while the wide usage of enteroscopy would benefit PJS surveillance. (Source: Cancer Genetics)
Source: Cancer Genetics - December 1, 2018 Category: Cancer & Oncology Source Type: research
Constitutional chromosome rearrangements that mimic the 2017 World Health Organization “acute myeloid leukemia with recurrent genetic abnormalities”: a study of three cases and review of the literature
ConclusionsOur findings illustrate that constitutional rearrangements can mimic recurrent genetic abnormalities observed in AML, and we emphasize the importance of correlating genetic data with clinical and hematopathologic information. (Source: Cancer Genetics)
Source: Cancer Genetics - November 21, 2018 Category: Cancer & Oncology Source Type: research
Molecular and Pathologic Characterization of AML with Double Inv(3)(q21q26.2)
Publication date: Available online 16 November 2018Source: Cancer GeneticsAuthor(s): Jennelle C. Hodge, David Bosler, Lauren Rubinstein, Navid Sadri, Shashirekha ShettyAbstractThe inv(3)(q21q26.2) altering a single chromosome 3 homolog is an established myeloid malignancy-associated entity. Comparatively, double inv(3) cases involving both homologs are exceedingly rare with 13 reports across AML, CML and MDS. This scarcity was confirmed by finding only 2 new cases out of 34,898 bone marrows collected during a 55 year period at a large medical center (0.0005%). The double inv(3) was detected by karyotype and confirmed by FI...
Source: Cancer Genetics - November 16, 2018 Category: Cancer & Oncology Source Type: research
Reprint of: Circulating cell-free DNA mutation patterns in early and late stage colon and pancreatic cancer
Publication date: Available online 9 November 2018Source: Cancer GeneticsAuthor(s): Eveline E. Vietsch, Garrett T. Graham, Justine N. McCutcheon, Aamir Javaid, Giuseppe Giaccone, John L. Marshall, Anton WellsteinCancer is a heterogeneous disease harboring diverse subclonal populations that can be discriminated by their DNA mutations. Environmental pressure selects subclones that ultimately drive disease progression and tumor relapse. Circulating cell-free DNA (ccfDNA) can be used to approximate the mutational makeup of cancer lesions and can serve as a marker for monitoring disease progression at the molecular level withou...
Source: Cancer Genetics - November 15, 2018 Category: Cancer & Oncology Source Type: research
Genome-wide isoform-level analysis reveals tumor-specific isoforms for lung adenocarcinoma diagnosis and prognosis: Tumor-specific mRNA isoforms for lung cancer diagnosis and prognosis
Publication date: Available online 13 November 2018Source: Cancer GeneticsAuthor(s): Hu Zhuhong, Bai Zhenyu, Chen Xiangyuan, Xu Tingzhen, Song LibinAbstractLast decades have witnessed the great progress in exploration of tumor transcriptome. However, most researches were restricted in gene-level expression. mRNA isoforms, especially tumor-specific isoforms have not been fully explored in tumor. Here, by analyzing RNA-seq data derived from hundreds of samples in TCGA projects, we comprehensively characterized the expression variations of mRNA isoforms in adenocarcinoma of lung (LUAD), which is one of leading causes of cance...
Source: Cancer Genetics - November 14, 2018 Category: Cancer & Oncology Source Type: research
MiR-708-5p is inversely associated with EWS/FLI1 Ewing sarcoma but does not represent a prognostic predictor
ConclusionsTaken together, our results suggest that despite downregulated in EWS samples, this miRNA might represent a secondary genetic alteration derived from the pleiotropic cellular effects of the abnormal EWS/FLI1 transcription factor that does not affect tumor growth but instead, is related with the promotion of tumor invasion, not being suitable for future therapeutic intervention. (Source: Cancer Genetics)
Source: Cancer Genetics - November 14, 2018 Category: Cancer & Oncology Source Type: research
Novel rearrangements involving the RET gene in papillary thyroid carcinoma
ConclusionsRUFY2-RET and KIAA1468-RET are novel RET/PTC rearrangements. The fusions were previously described in non–small cell lung cancer. The rearrangement results in a fusion of the RET tyrosine kinase to regulatory domains of RUFY2 and KIAA1468. (Source: Cancer Genetics)
Source: Cancer Genetics - November 14, 2018 Category: Cancer & Oncology Source Type: research
Circulating cell-free DNA mutation patterns in early and late stage colon and pancreatic cancer
Publication date: Available online 9 November 2018Source: Cancer GeneticsAuthor(s): Eveline E. Vietsch, Garrett T. Graham, Justine N. McCutcheon, Aamir Javaid, Giuseppe Giaccone, John L. Marshall, Anton WellsteinCancer is a heterogeneous disease harboring diverse subclonal populations that can be discriminated by their DNA mutations. Environmental pressure selects subclones that ultimately drive disease progression and tumor relapse. Circulating cell-free DNA (ccfDNA) can be used to approximate the mutational makeup of cancer lesions and can serve as a marker for monitoring disease progression at the molecular level withou...
Source: Cancer Genetics - November 11, 2018 Category: Cancer & Oncology Source Type: research
Establishing a Human Adrenocortical Carcinoma (ACC)-Specific Gene Mutation Signature
Publication date: Available online 9 November 2018Source: Cancer GeneticsAuthor(s): Chinmay Satish Rahane, Arne Kutzner, Klaus HeeseAbstractAdrenocortical carcinoma (ACC) is a rare and aggressive tumor whose molecular signaling pathways are not fully understood. Using an in-silico clinical data analysis approach we retrieved human gene mutation data from the highly reputed Cancer Genome Atlas (TCGA). ACC-specific gene mutations were correlated with proliferation marker FAM72 expression and Mutsig along with the algorithmic implementation of the 20/20 rule were used to validate their oncogenic potential. The newly identifie...
Source: Cancer Genetics - November 9, 2018 Category: Cancer & Oncology Source Type: research
A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12)
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytos...
Source: Cancer Genetics - November 7, 2018 Category: Cancer & Oncology Source Type: research
Clinical Impact of MYC Abnormalities in Plasma Cell Myeloma
In this study we evaluated the karyotypes obtained in a single institution to identify recurring cytogenetic abnormalities. We constructed evolutionary pathways to differentiate abnormalities present at the beginning of evolution from those that developed later in evolution. We then estimated genetic progression scores and the clinical impact of the cytogenetic abnormalities on survival. In addition, we also evaluated the clinical significance of MYC related abnormalities (translocations and numerical changes) in disease evolution and on survival. Our results indicate that PCM with MYC related abnormalities in general have...
Source: Cancer Genetics - October 31, 2018 Category: Cancer & Oncology Source Type: research
A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12).
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases upstream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytos...
Source: Cancer Genetics - October 29, 2018 Category: Cancer & Oncology Source Type: research
Identification of eight meta-signature miRNAs as potential biomarkers for Oropharyngeal Cancers
ConclusionEight important miRNAs were identified by meta-analysis as well as the corresponding target genes and transcription factors. The potential functions were revealed, which will provide novel insights for the target treatment of OC. (Source: Cancer Genetics)
Source: Cancer Genetics - October 24, 2018 Category: Cancer & Oncology Source Type: research
Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group
Publication date: Available online 6 October 2018Source: Cancer GeneticsAuthor(s): Xinjie Xu, Christine Bryke, Madina Sukhanova, Emma Huxley, D.P. Dash, Amanda Dixon-Mciver, Min Fang, Patricia T. Griepp, Jennelle C. Hodge, Anwar Iqbal, Sally Jeffries, Rashmi Kanagal-Shamanna, Fabiola Quintero-Rivera, Shashi Shetty, Marilyn L. Slovak, Ashwini Yenamandra, Patrick A. Lennon, Gordana RacaAbstractStructural genomic abnormalities, including balanced chromosomal rearrangements, copy number gains and losses and copy-neutral loss-of-heterozygosity (CN-LOH) represent an important category of diagnostic, prognostic and therapeutic ma...
Source: Cancer Genetics - October 20, 2018 Category: Cancer & Oncology Source Type: research
Identification and characterization of a novel nuclear structure containing members of the homologous recombination and DNA damage response pathways
Publication date: Available online 18 October 2018Source: Cancer GeneticsAuthor(s): Megan L Sierant, Scott K DaveyAbstractThe human RAD9A protein is required for successful execution of the G2/M DNA damage checkpoint. Along with RAD1 and HUS1, RAD9A exists in a heterotrimeric ring-shaped complex which is necessary for activation of the CHK1 checkpoint kinase. RAD9A is also required for proper localization of both TopBP1 and the Claspin adaptor protein during the DNA damage response. We have shown large, RAD9A-dense nuclear foci containing several members of the homologous recombination pathway as well as BRCA1 and the DNA ...
Source: Cancer Genetics - October 19, 2018 Category: Cancer & Oncology Source Type: research
