Untouchable genes in the human genome: identifying ideal targets for cancer treatment
Conclusions: Untouchable genes may be ideal targets for cancer treatment since suppression of untouchable genes is expected to inhibit survival of tumor cells. (Source: Cancer Genetics)
Source: Cancer Genetics - January 25, 2019 Category: Cancer & Oncology Source Type: research

Genomic landscape of synchronous tubulovillous adenoma and multiple non-familial colon cancers from a single patient
Publication date: Available online 11 January 2019Source: Cancer GeneticsAuthor(s): Kyung Kim, Su-Hye Choi, Jeeyun Lee, Won-Suk LeeAbstractColorectal cancer (CRC) is one of the leading causes of cancer-related death. We analyzed genomic of non-familial tubulovillous adenoma (TVA) and two synchronous malignant colorectal adenocarcinomas from a single patient. The number of somatic mutations was higher in the tumor sample (especially, AV50cm adenocarcinoma sample) than TVA sample, and also the allele frequency of mutation was higher on colon adenocarcinoma samples than TVA. Although they were very low frequency of sharing sa...
Source: Cancer Genetics - January 13, 2019 Category: Cancer & Oncology Source Type: research

Molecular evaluation of BRAF V600 mutation and its association with clinicopathological characteristics: First findings from Indian malignant melanoma patients.
In conclusion, this is the first study to report a mutation frequency of 30% in this cohort. Our results demonstrated that the BRAF V600E mutation is a frequent event in Indian melanomas, and represents an important molecular target for novel therapeutic approaches. (Source: Cancer Genetics)
Source: Cancer Genetics - January 10, 2019 Category: Cancer & Oncology Source Type: research

A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia
Publication date: Available online 9 January 2019Source: Cancer GeneticsAuthor(s): Jedrzej Wykretowicz, Yeohan Song, Brooke McKnight, Sung Won Choi, John Magenau, Radhika Takiar, Paul El Tomb, David Ginsburg, Dale Bixby, Rami KhoriatyAbstractMyelodysplastic syndromes (MDS) are a heterogeneous category of myeloid neoplasms that represent the most common class of acquired bone marrow failure syndromes in adults. MDS is typically associated with a hypoproliferative macrocytic anemia, but atypical findings on initial diagnostic evaluations can raise concern for a distinct pathophysiological process and lead to the investigatio...
Source: Cancer Genetics - January 10, 2019 Category: Cancer & Oncology Source Type: research

RBM10 Truncation in Astroblastoma in a Patient with History of Mandibular Ameloblastoma: A case report
Publication date: Available online 9 January 2019Source: Cancer GeneticsAuthor(s): Nazanin K. Majd, Nicolas R. Metrus, Fernando Santos-Pinheiro, Christopher R. Trevino, Gregory N. Fuller, Jason T. Huse, Caroline Chung, Leena Ketonen, Mark D. Anderson, Marta Penas-PradoAbstractAstroblastoma is a rare glial neoplasm composed of cells that have broad processes oriented perpendicular to central vessels and often demonstrate vascular sclerosis. The WHO 2016 classification does not specify a grading system for astroblastoma, and categorizes them as well-differentiated or malignant. These broad classification rubrics, however, do...
Source: Cancer Genetics - January 10, 2019 Category: Cancer & Oncology Source Type: research

Embryonal Rhabdomyosarcoma In a Patient With a Germline CBL Pathogenic Variant
Publication date: Available online 30 December 2018Source: Cancer GeneticsAuthor(s): Jianling Ji, Fariba Navid, Mathew C. Hiemenz, Maki Kaneko, Shengmei Zhou, Sulagna Saitta, Jaclyn A. BiegelAbstractGermline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia. Herein, we describe a patient with clinical features of a Noonan-spectrum disorder who developed embryonal rhabdomyosarcoma of the bladder at age two years. Tumor analysis using the OncoKids® cancer panel revealed a CBL pathogenic variant: NM_005188.3:c.1...
Source: Cancer Genetics - December 30, 2018 Category: Cancer & Oncology Source Type: research

Novel pleiotropic BRCA2 pathogenic variants in Lebanese families
Publication date: Available online 30 December 2018Source: Cancer GeneticsAuthor(s): El-Khoury Riyad, Hajj Mirnab Jinan Khraibani, Audi Emma, Monsef Carla, Farra ChantalAbstractBRCA1 and BRCA2 associated pathogenic variants are the major cause of familial cases of early onset breast and ovarian cancers. Here we report two novel heterozygous pathogenic variants in exons 18 and 11 of the BRCA2 gene in two Lebanese families. The double nucleotide insertion c.8052_8053dupAA was identified in a 38-year-old Lebanese woman diagnosed with a breast cancer. The patient had a family history of affected first degree relatives. The dou...
Source: Cancer Genetics - December 30, 2018 Category: Cancer & Oncology Source Type: research

Influence of bcr-3 PML-RARα transcript on outcome in Acute Promyelocytic Leukemia patients of Kashmir treated with all-trans retinoic acid and/or arsenic tri-oxide
Publication date: February 2019Source: Cancer Genetics, Volumes 231–232Author(s): Shahid M. Baba, Zafar A. Shah, Arshad A. Pandith, Dil-Afroze, Aleem Jan, Khurshid A. Mir, Sheikh A. Aziz, Zahoor A. BhatAbstractAimsDistinct types of PML-RARα hybrid transcripts viz bcr-1, bcr-2 and bcr-3 result from translocation between chromosomes 15 and 17 t(15;17) in Acute Promyelocytic Leukemia patients. We aimed to determine the frequencies of the PML-RARα transcripts and FLT3-ITD mutations in APL patients to evaluate their prognostic implications and also to analyze their impact on disease outcome.Main methodRT-PCR and Rq-PCR were...
Source: Cancer Genetics - December 29, 2018 Category: Cancer & Oncology Source Type: research

Down-regulation of miR-9 promotes epithelial mesenchymal transition via regulating anoctamin-1 (ANO1) in CRC cells
In this study, we investigated the effects of anoctamin-1 (ANO1) and miR-9 on colorectal cancer (CRC) cell proliferation, migration, and invasion and determined the underlying molecular mechanisms.Thirty-two paired CRC tissues and adjacent normal tissues were analyzed for ANO1 expression using quantitative real-time PCR (qRT-PCR). HCT116 cells were transiently transfected with miR-9 mimic, miR-9 inhibitor, or si-ANO1. Cell proliferation was determined by MTT, and flow cytometric analysis, while cell migration and invasion were assayed by trans-well migration and invasion assay in HCT116 cells. ANO1 was validated as a targe...
Source: Cancer Genetics - December 27, 2018 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: January 2019Source: Cancer Genetics, Volume 230Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - December 19, 2018 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: December 2018Source: Cancer Genetics, Volumes 228–229Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - December 13, 2018 Category: Cancer & Oncology Source Type: research

Transformational role of liquid biopsy in diagnosis and treatment of cancer
Publication date: December 2018Source: Cancer Genetics, Volumes 228–229Author(s): Mersedeh Rohanizadegan, Shashikant Kulkarni (Source: Cancer Genetics)
Source: Cancer Genetics - December 13, 2018 Category: Cancer & Oncology Source Type: research

Utilization of CMA in myeloid, lymphoid and plasma cell disorders
Publication date: December 2018Source: Cancer Genetics, Volumes 228–229Author(s): Schwartz Stuart (Source: Cancer Genetics)
Source: Cancer Genetics - December 13, 2018 Category: Cancer & Oncology Source Type: research

Multidisciplinary Analysis of Pediatric T-ALL: 9q34 Gene Fusions
Publication date: Available online 12 December 2018Source: Cancer GeneticsAuthor(s): Peter Papenhausen, Carla A. Kelly, Zhenxi Zhang, James Tepperberg, Rachel D. Burnside, Stuart SchwartzAbstractT-cell acute lymphoblastic leukemia (T-ALL) is not as frequently reported as the B-cell counterpart (B-ALL), only occurring in about 15% of pediatric cases with a typically heterogeneous etiology. Approximately 8% of childhood T-ALL cases have rearrangements involving the ABL1 tyrosine kinase gene at 9q34.12; although a t(9;22), resulting in a fusion of ABL1 with the BCR gene at 22q11.23 is a common occurrence in B-ALL, it is not a...
Source: Cancer Genetics - December 13, 2018 Category: Cancer & Oncology Source Type: research

The Clinical and Prognostic Significance of FIS1, SPI1, PDCD7 and Ang2 Expression Levels in Acute Myeloid Leukemia
ConclusionsFIS1 and PDCD7 expression are considered independent risk factors and should be integrated into the current AML stratification system. (Source: Cancer Genetics)
Source: Cancer Genetics - December 8, 2018 Category: Cancer & Oncology Source Type: research