Assessing Copy Number Aberrations and Copy-Neutral Loss-of-Heterozygosity Across the Genome as Best Practice: An Evidence-Based Review from the Cancer Genomics Consortium (CGC) Working Group for Chronic Lymphocytic Leukemia
Publication date: Available online 16 October 2018Source: Cancer GeneticsAuthor(s): Kathy Chun, Gail D. Wenger, Alka Chaubey, D.P. Dash, Rashmi Kanagal-Shamanna, Sibel Kanturci, Ravindra Kolhe, Daniel L. Van Dyke, Lu Wang, Daynna J. Wolff, Patricia M. MironAbstractThe prognostic role of cytogenetic analysis is well-established in B-cell chronic lymphocytic leukemia (CLL). Approximately 80% of patients have a cytogenetic aberration. Interphase FISH panels have been the gold standard for cytogenetic evaluation, but conventional cytogenetics allows detection of additional abnormalities, including translocations, complex karyo...
Source: Cancer Genetics - October 16, 2018 Category: Cancer & Oncology Source Type: research

An expression quantitative trait locus variant for LKB1 gene predicts the clinical outcomes of chemotherapy in patients with non-small cell lung cancer
ConclusionsOur results suggest that rs10414193A>G may be useful for the prediction of clinical outcomes of chemotherapy in advanced NSCLC. (Source: Cancer Genetics)
Source: Cancer Genetics - October 16, 2018 Category: Cancer & Oncology Source Type: research

Assessing Copy Number Aberrations and Copy Neutral Loss of Heterozygosity Across the Genome as Best Practice: An Evidence Based Review of Clinical Utility from the Cancer Genomics Consortium (CGC) Working Group for Myelodysplastic Syndrome, Myelodysplastic/Myeloproliferative and Myeloproliferative Neoplasms
Publication date: Available online 10 October 2018Source: Cancer GeneticsAuthor(s): Rashmi Kanagal-Shamanna, Jennelle C. Hodge, Tracy Tucker, Shashi Shetty, Ashwini Yenamandra, Amanda Dixon-McIver, Christine Bryke, Emma Huxley, Patrick A. Lennon, Gordana Raca, Xinjie Xu, Sally Jeffries, Fabiola Quintero-Rivera, Patricia T. Greipp, Marilyn L. Slovak, M. Anwar Iqbal, Min FangAbstractMultiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) in myeloid malignancies. However, guidelines...
Source: Cancer Genetics - October 11, 2018 Category: Cancer & Oncology Source Type: research

The role of E-cadherin and Runx3 in Helicobacter Pylori – Associated gastric carcinoma is achieved through regulating P21waf and P27 expression
ConclusionsHP plays an important role in the development and progression of GC through silencing of CDH1, RUNX3, p21WAF and p27 expression. (Source: Cancer Genetics)
Source: Cancer Genetics - October 9, 2018 Category: Cancer & Oncology Source Type: research

BAP1 gene mutations in Egyptian patients with advanced sporadic malignant Pleural mesothelioma (MPM): Relation with clinical outcomes and survival
ConclusionBAP1 gene mutations are relatively common in Egyptian patients with advanced sporadic MPM. BAP1 mutations are associated with disease progression especially after second line therapy and the incidence of organ metastasis. (Source: Cancer Genetics)
Source: Cancer Genetics - October 8, 2018 Category: Cancer & Oncology Source Type: research

Assessing Copy Number Aberrations 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 marke...
Source: Cancer Genetics - October 7, 2018 Category: Cancer & Oncology Source Type: research

Screening and characterization of BRCA2 c.156_157insAlu in Brazil: results from 1380 individuals from the South and Southeast.
In conclusion, the present study reports a low albeit relevant frequency of the Portuguese BRCA2 founder mutation c.156_157insAlu in Brazilian patients at-risk for HBOC Brazilian population. (Source: Cancer Genetics)
Source: Cancer Genetics - October 6, 2018 Category: Cancer & Oncology Source Type: research

Assessing Genome-wide Copy Number Aberrations and Copy-Neutral Loss-of-Heterozygosity as Best Practice: An Evidence-Based Review from the Cancer Genomics Consortium Working Group for Plasma Cell Disorders
ConclusionWe present an overview of current practices in plasma cell neoplasm testing as well as an algorithm for integrated FISH and CMA testing to guide treatment of this disease. (Source: Cancer Genetics)
Source: Cancer Genetics - October 5, 2018 Category: Cancer & Oncology Source Type: research

Myeloproliferative neoplasm with ABL1/ETV6 rearrangement mimics chronic myeloid leukemia and responds to tyrosine kinase inhibitors
We report a 47-year-old man who presented with MPN with clinicopathologic features resembling chronic myeloid leukemia, but there was no evidence of t(9;22)(p34.1;q11.2) or BCR-ABL1 fusion. Conventional cytogenetics and fluorescence in situ hybridization analysis showed ins(12;9)(p13;q34q34) that led to ETV6-ABL1 fusion. The patient responded well to tyrosine kinase inhibitor therapy and achieved remission for 7 years. (Source: Cancer Genetics)
Source: Cancer Genetics - October 4, 2018 Category: Cancer & Oncology Source Type: research

The Role of E-Cadherin and Runx3 in Helicobacter Pylori- Associated Gastric Carcinoma Is Achieved Through Regulating P21waf and P27 Expression
Conclusions: HP plays an important role in the development and progression of GC through silencing of CDH1, RUNX3, p21WAF and p27 expression. (Source: Cancer Genetics)
Source: Cancer Genetics - September 21, 2018 Category: Cancer & Oncology Source Type: research

Validation of a Next-Generation Sequencing Oncology Panel Optimized for Low Input DNA
Publication date: Available online 19 September 2018Source: Cancer GeneticsAuthor(s): Robyn T. Sussman, Sydney Shaffer, Elizabeth M. Azzato, Daniel DeSloover, Midhat S. Farooqi, Anders Meyer, David B. Lieberman, Ashkan Bigdeli, Carmela Paolillo, Karthik Ganapathy, Shrey Sukhadia, Jason N. Rosenbaum, Robert D. Daber, Jennifer J.D. MorrissetteAbstractOne caveat of next-generation sequencing (NGS)-based clinical oncology testing is the high amount of input DNA required. We sought to develop a focused NGS panel that could capture hotspot regions in relevant genes requiring 0.5-10 ng input DNA. The resulting Penn Precision Pane...
Source: Cancer Genetics - September 21, 2018 Category: Cancer & Oncology Source Type: research

Primary extranodal diffuse large B-cell lymphomas: many sites, many entities? Clinico-pathological, immunohistochemical and cytogenetic study of 106 cases.
In conclusion, our data suggest that immunophenotypic, genetic and survival characteristics of EN-DLBCL are related to the specific primary site of the disease. (Source: Cancer Genetics)
Source: Cancer Genetics - August 29, 2018 Category: Cancer & Oncology Source Type: research

Evaluation of commercial kits for purification of circulating free DNA
This study represents the first to use a comprehensive size distribution of spiked-in DNA fragments to evaluate commercial cfDNA kits. The commonly used spin column-based Qiagen QIAamp circulating nucleic acid kit was found to be the most consistent performing kit across the two evaluation assays employed. The Qiagen QIAamp minElute ccfDNA mini kit represented the best performing magnetic bead-based kit and provides an alternative based on lower cost/sample with a simpler workflow than spin column-based kits. (Source: Cancer Genetics)
Source: Cancer Genetics - August 29, 2018 Category: Cancer & Oncology Source Type: research

Identification of key genes and construction of microRNA-mRNA regulatory networks in non-small cell lung cancer
In conclusion, a set of differentially expressed microRNAs in NSCLC was identified and the CCND1 gene was determined as the potential prognostic biomarkers for NSCLC, providing useful information for discovery of future therapeutic targets and candidates in the clinical management of NSCLC. (Source: Cancer Genetics)
Source: Cancer Genetics - August 27, 2018 Category: Cancer & Oncology Source Type: research

Myeloproliferative Neoplasm with ABL1/ETV6 Rearrangement Mimics Chronic Myeloid Leukemia and Responses to Tyrosine Kinase Inhibitors
We report a 47-year-old man who presented with MPN with clinicopathologic features resembling chronic myeloid leukemia, but there was no evidence of t(9;22)(p34.1;q11.2) or BCR-ABL1 fusion. Conventional cytogenetics and fluorescence in situ hybridization analysis showed ins(12;9)(p13;q34q34) that led to ETV6-ABL1 fusion. The patient responded well to tyrosine kinase inhibitor therapy and achieved remission for 7 years. (Source: Cancer Genetics)
Source: Cancer Genetics - August 27, 2018 Category: Cancer & Oncology Source Type: research