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Cancer Genetics

Francesco M Serafini, David Radvinsky
Cholangiocarcinoma (CCA) is an aggressive malignancy that originates from the epithelial cells of the biliary duct system. Depending on the anatomical location, CCA can be considered extrahepatic (eCCA) or intrahepatic (iCCA) (1). Two thirds of CCAs involve the extrahepatic biliary system, whereas the rest are confined within the liver parenchyma, beyond the secondary biliary radicals (2). Due to its biological aggressiveness and difficulty in diagnosis, the majority of patients with CCA are unresectable at presentation and the overall 5-year survival is approximately five percent (4)...
August 16, 2016: Cancer Genetics
Forat Swaid, Darrell Downs, Alexander S Rosemurgy
The liver is a site of metastasis in 25% of metastatic cancers (Abbruzzese et al., 1995). In Western countries, metastases are the most common type of malignant neoplasms in the liver. The majority of liver metastases arise from carcinomas, but other primary tumor types should also be considered, such as lymphomas, sarcomas, melanomas, and germ cell tumors. Of primary liver malignancies, hepatocellular carcinoma is the most common (Hertz et al., 2000). The differentiation between metastatic carcinoma to the liver and primary hepatocellular carcinoma is sometimes challenging...
August 15, 2016: Cancer Genetics
Indraneil Mukherjee, Brett Powell, Mary Parianos, Darrell Downs, Sharona B Ross
The incidence of pancreatic cancer, the fourth leading cause of cancer death in United States, is increasing worldwide. Even though the cure rate has doubled in 40 years, it is abysmally poor at 6-7%. As surgical resection remains the only curative treatment and less than 20% of the newly diagnosed cancers are resectable, the major burden of disease management lies in early diagnosis, good prognostication, and proper neo-adjuvant and/or adjuvant therapy. With advancing technologies and their ease of availability, researchers have better tools to understand pancreatic cancer...
August 5, 2016: Cancer Genetics
Catalina Mosquera, Dino Maglic, Emmanuel E Zervos
Molecular targeted therapy is widely utilized and effective in a number of solid tumors. In pancreatic adenocarcinoma, targeted therapy has been extensively evaluated; however, survival improvement of this aggressive disease using a targeted strategy has been minimal. The purpose of this study is to review therapeutic molecular targets in completed and ongoing later phase (II and III) clinical trials to have a better understanding of the rationale and progress towards targeted molecular therapies for pancreatic cancer...
August 2, 2016: Cancer Genetics
Nathan D Montgomery, Wilborn B Coward, Steven Johnson, Ji Yuan, Margaret L Gulley, Stephanie P Mathews, Kathleen Kaiser-Rogers, Kathleen W Rao, Warren G Sanger, Jennifer N Sanmann, Yuri Fedoriw
Classical Hodgkin lymphoma (CHL) is morphologically characterized by scattered malignant Hodgkin/Reed-Sternberg (HRS) cells that are far outnumbered by surrounding reactive hematolymphoid cells. Approximately half of all cases of CHL are associated with infection by Epstein-Barr virus (EBV), an oncogenic herpesvirus that expresses a number of proteins thought to contribute to transformation. While a small number of published studies have attempted to identify recurrent cytogenetic abnormalities in CHL, no large case series have explored karyotypic differences between EBV-positive and EBV-negative tumors...
September 2016: Cancer Genetics
Tracey P Leedom, Holly LaDuca, Rachel McFarland, Shuwei Li, Jill S Dolinsky, Elizabeth C Chao
CHEK2 mutations are associated with increased cancer risks, including breast; however, published risk estimates are limited to those conferred by CHEK2 founder mutations, presenting uncertainty in risk assessment for carriers of other CHEK2 mutations. This study aimed to assess phenotypes and molecular characteristics of CHEK2 mutation carriers (CHEK2 + s) from a multi-gene panel testing (MGPT) cohort, focusing on comparing phenotypes of founder and non-founder CHEK2 + s. Clinical histories and molecular results were reviewed from 45,879 patients who underwent MGPT including CHEK2 at a commercial laboratory...
September 2016: Cancer Genetics
Cecilia C S Yeung, H Joachim Deeg, Colin Pritchard, David Wu, Min Fang
Jumping translocations (JT) have been identified in numerous malignancies, including leukemia, but infrequently in patients with myelodysplastic syndromes (MDS). The responsible genetic region has been mapped to the JTB gene at 1q21, but breakpoints involving other chromosomal loci, such as 3q and 11q, have been described as well. We have characterized the pathological and mutational landscape, and the clinical course of 6 new MDS patients with jumping mutations using chromosome genomic array testing (CGAT) and target gene panel next generation sequencing...
September 2016: Cancer Genetics
Feifei Liu, Keith Dear, Lei Huang, Li Liu, Yun Shi, Shaofa Nie, Yisi Liu, Yuanan Lu, Hao Xiang
Colorectal cancer (CRC) is the most common malignancy in the human digestive system. Previous results regarding the association between microRNA-27a rs895819 polymorphisms and CRC risk are controversial. We therefore performed a meta-analysis of seven studies totaling 2230 cases and 2775 controls to systematically evaluate this association. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were obtained using a fixed-effects model. A moderate evidence for the association between mir-27a polymorphism and CRC risk was found under multiple genetic models (dominant model: OR = 1...
September 2016: Cancer Genetics
Valeria Ascoli, Ilaria Cozzi, Simona Vatrano, Stefania Izzo, Jessica Giorcelli, Elisa Romeo, Caterina Carnovale-Scalzo, Lucia Rosalba Grillo, Francesco Facciolo, Paolo Visca, Mauro Papotti, Luisella Righi
Familial malignant mesothelioma clusters are ideal candidates to explore BAP1 genomic status as a predisposing risk factor. We report data on BAP1 analysis in four families with multiple mesothelioma cases to investigate possible BAP1 alterations associated with an inherited cancer syndrome. We also recorded family history of cancer and assessed asbestos exposure. By genomic direct sequencing, we found no evidence of a BAP1 germline mutation in tumor DNA samples (one mesothelioma per family: n = 3 epithelioid; n = 1 biphasic)...
September 2016: Cancer Genetics
Wensheng Zhang, Erik K Flemington, Kun Zhang
Most cancers are driven by somatic mutations in proto-oncogenes and tumor suppressor genes. Genetic changes in a tumor may accumulate in the tissue self-renewal phase prior to neoplasm. The risk of sporadic mutations increases with age. In this regard, a positive association between patient age and the accumulated mutation burden in tumors exists for many cancer types. However, the reported lines of evidence for such a connection are still limited. TP53 is the most frequently mutated cancer gene. The encoded p53 protein plays crucial roles in DNA repair...
September 2016: Cancer Genetics
Rong-Miao Zhou, Yan Li, Na Wang, Xi Huang, Shi-Ru Cao, Bao-En Shan
Programmed death-1 (PD-1) is an immunoinhibitory receptor belonging to the CD28 family. This study was designed to investigate the association of PD-1 rs36084323:A>G, rs2227981:C>T, rs2227982:C>T and rs10204525:A>G single nucleotide polymorphisms (SNPs) with the risk and prognosis of esophageal squamous cell carcinoma (ESCC) in a high-incidence population from Northern China. These four SNPs were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method in 584 ESCC patients and 585 healthy controls...
September 2016: Cancer Genetics
Tejus A Bale, Malak Abedalthagafi, Wenya Linda Bi, Yun Jee Kang, Parker Merrill, Ian F Dunn, Adrian Dubuc, Sarah K Charbonneau, Loreal Brown, Azra H Ligon, Shakti H Ramkissoon, Keith L Ligon
Astroblastomas are rare primary brain tumors, diagnosed based on histologic features. Not currently assigned a WHO grade, they typically display indolent behavior, with occasional variants taking a more aggressive course. We characterized the immunohistochemical characteristics, copy number (high-resolution array comparative genomic hybridization, OncoCopy) and mutational profile (targeted next-generation exome sequencing, OncoPanel) of a cohort of seven biopsies from four patients to identify recurrent genomic events that may help distinguish astroblastomas from other more common high-grade gliomas...
July 2016: Cancer Genetics
Cíntia C F Callegari, Iglenir J Cavalli, Rubens S Lima, Tayana S Jucoski, Clarissa Torresan, Cicero A Urban, Flavia Kuroda, Karina F Anselmi, Luciane R Cavalli, Enilze M S F Ribeiro
In breast cancer, lymph node (LN) metastasis is one of the strongest prognostic factors at diagnosis. Therefore the identification of molecular markers with metastatic potential that promote the development of LN metastasis is of critical clinical relevance. In this study, we evaluated the copy number status of the FOSL1, GSTP1, NTSR1, FADD and CCND1 genes by TaqMan assays in 137 breast cancer patients, 84 with LN metastasis (LN+) and 53 with no LN metastasis (LN-). The copy number data for four of these genes (FOSL1, GSTP1, FADD and CCND1) were integrated with their mRNA expression levels in 31 patients...
July 2016: Cancer Genetics
Motahareh Nadimi, Soheila Rahgozar, Alireza Moafi, Manoochehr Tavassoli, Hamzeh Mesrian Tanha
Acute leukemia is the most common cancer in children and involves several factors that contribute to the development of multidrug resistance and treatment failure. According to our recent studies, the BAALC gene is identified to have high mRNA expression levels in childhood acute lymphoblastic leukemia (ALL) and those with multidrug resistance. Several polymorphisms are associated with the expression of this gene. To date, there has been no study on the rs62527607 [GT] single nucleotide polymorphism (SNP) of BAALC gene and its link with childhood acute lymphoblastic and myeloid leukemia (AML)...
July 2016: Cancer Genetics
Marie Jarosova, Jana Volejnikova, Ilona Porizkova, Milena Holzerova, Dagmar Pospisilova, Zbynek Novak, Jana Vrbkova, Vladimir Mihal
Genetic analysis of leukemic cells significantly impacts prognosis and treatment stratification in childhood acute lymphoblastic leukemia (ALL). Our retrospective single center study of 86 children with ALL enrolled into three consecutive treatment protocols (ALL-BFM 90, ALL-BFM 95 and ALL IC-BFM 2002) between 1991 and 2007 demonstrates the importance of conventional cytogenetics and fluorescence in situ hybridization (FISH). Cytogenetic and FISH examinations were performed successfully in 82/86 (95.3%) patients and chromosomal changes were detected in 78 of the 82 (95...
July 2016: Cancer Genetics
Riccardo Ricci, Maurizio Martini, Tonia Cenci, Maria Elena Riccioni, Giorgio Maria, Alessandra Cassano, Luigi Maria Larocca
The vast majority of gastrointestinal stromal tumors (GISTs) occur as sporadic tumors. Rarely, however, these neoplasms can arise in syndromic contexts. Under these circumstances, GISTs are often multiple and associated with accompanying signs peculiar of the hosting syndrome. Moreover, syndromic GISTs themselves tend to show heterogeneous features depending on the underlying condition. Multiple inflammatory fibroid polyps (IFPs) and a jejunal spindle-cell GIST were resected in a germline PDGFRA-mutant individual...
July 2016: Cancer Genetics
Hilary Racher, Sameh Soliman, Bob Argiropoulos, Helen S L Chan, Brenda L Gallie, Renée Perrier, Donco Matevski, Diane Rushlow, Beata Piovesan, Furqan Shaikh, Heather MacDonald, Timothy W Corson
The pediatric ocular tumor retinoblastoma readily metastasizes, but these lesions can masquerade as histologically similar pediatric small round blue cell tumors. Since 98% of retinoblastomas have RB1 mutations and a characteristic genomic copy number "signature", genetic analysis is an appealing adjunct to histopathology to distinguish retinoblastoma metastasis from second primary cancer in retinoblastoma patients. Here, we describe such an approach in two retinoblastoma cases. In patient one, allele-specific (AS)-PCR for a somatic nonsense mutation confirmed that a temple mass was metastatic retinoblastoma...
July 2016: Cancer Genetics
Yang O Huh, Guilin Tang, Sameer S Talwalkar, Joseph D Khoury, Maro Ohanian, Carlos E Bueso-Ramos, Lynne V Abruzzo
Double minute chromosomes (dmin) are small, paired chromatin bodies that lack a centromere and represent a form of extrachromosomal gene amplification. Dmin are rare in myeloid neoplasms and are generally associated with a poor prognosis. Most studies of dmin in myeloid neoplasms are case reports or small series. In the current study, we present the clinicopathologic and cytogenetic features of 22 patients with myeloid neoplasms harboring dmin. These neoplasms included acute myeloid leukemia (AML) (n = 18), myelodysplastic syndrome (MDS) (n = 3), and chronic myelomonocytic leukemia (CMML) (n = 1)...
July 2016: Cancer Genetics
Natalya V Guseva, Munir R Tanas, Aaron A Stence, Ramakrishna Sompallae, Jenna C Schade, Aaron D Bossler, Andrew M Bellizzi, Deqin Ma
Solitary fibrous tumor (SFT) is a mesenchymal tumor of fibroblastic origin, which can affect any region of the body. 10-15% of SFTs metastasize and metastatic tumors are uniformly lethal with no effective therapies. The behavior of SFT is difficult to predict based on morphology. Recently, an intrachromosomal gene fusion between NAB2 and STAT6 was identified as the defining driving genetic event of SFT and different fusion types correlated with tumor histology and behavior. Due to the proximity of NAB2 and STAT6 on chromosome 12, this fusion may be missed by fluorescence in-situ hybridization...
July 2016: Cancer Genetics
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This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at
June 30, 2016: Cancer Genetics
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