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Cancer Genetics

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https://www.readbyqxmd.com/read/27931696/special-issue-editorial-cancer-genetics
#1
EDITORIAL
Alexander Rosemurgy
No abstract text is available yet for this article.
December 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27887938/molecular-profiles-in-foregut-oncology
#2
REVIEW
Prashant Sukharamwala, Daniel Hennessey, Thomas Wood, Shelly Singh, Carrie Ryan, Alexander Rosemurgy
Oncology is and will continue to evolve resulting from a better understanding of the biology and intrinsic genetic profile of each cancer. Tumor biomarkers and targeted therapies are the new face of precision medicine, so it is essential for all physicians caring for cancer patients to understand and assist patients in understanding the role and importance of such markers and strategies to target them. This review was initiated in an attempt to identify, characterize, and discuss literature supporting clinically relevant molecular markers and interventions...
December 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27720541/the-pathways-of-genetic-transformation-in-cholangiocarcinogenesis
#3
REVIEW
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)...
December 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27613577/molecular-targeted-therapy-for-pancreatic-adenocarcinoma-a-review-of-completed-and-ongoing-late-phase-clinical-trials
#4
REVIEW
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...
December 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27613576/available-technologies-and-clinical-applications-of-targeted-chemotherapy-in-pancreatic-cancer
#5
REVIEW
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...
December 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27601260/a-practical-approach-to-liver-metastasis-from-unknown-primary-cancer-what-surgeons-need-to-know
#6
REVIEW
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...
December 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886677/differences-in-global-dna-methylation-of-testicular-seminoma-are-not-associated-with-changes-in-histone-modifications-clinical-prognosis-braf-mutations-or-gene-expression
#7
Louise Holm Pedersen, John E Nielsen, Gedske Daugaard, Thomas V O Hansen, Ewa Rajpert-De Meyts, Kristian Almstrup
Testicular germ cell tumours of young adults are comprised of a heterogeneous group of non-seminomas and a homogeneous group of seminomas. While the majority of seminomas retain a hypo-methylated genome, a small fraction displays a highly methylated genome, resembling hyper-methylated non-seminomas. It is well established from e.g. melanoma, colorectal and thyroid cancer that a methylated phenotype can be correlated to prognosis and can be related to BRAF mutations. In the present study we investigated the global methylation level in 67 seminomas and classified them as hypo-methylated, intermediate, patchy and hyper-methylated, respectively...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886676/chromosomal-rearrangements-in-myoepithelial-carcinoma-of-the-breast-that-presented-as-metachronic-double-cancer-with-invasive-ductal-carcinoma-in-the-ipsilateral-breast
#8
Hiroyuki Kawashima, Takashi Ariizumi, Yasuo Saijo, Masato Moriyama, Hajime Umezu, Yoshiyuki Ikeda, Akira Ogose, Naoto Endo
Myoepithelial carcinoma of the breast is an extremely rare tumor composed entirely of malignant spindle cells with myoepithelial differentiation. The majority of previously reported cases have mainly described the clinicopathological features of the disease, and few have presented cytogenetic data. We herein present the case of a 48-year-old woman who was admitted with a left-sided breast lump in the inner upper quadrant that was initially diagnosed as a myoepithelioma with potentially malignant disorder. At 12 months after resection, she complained about a newly developed solid mass in the subareolar region of the ipsilateral breast that was diagnosed as an invasive ductal carcinoma...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886675/pathogenic-germline-mcm9-variants-are-rare-in-australian-lynch-like-syndrome-patients
#9
Qing Liu, Luke B Hesson, Andrea C Nunez, Deborah Packham, Nicholas J Hawkins, Robyn L Ward, Mathew A Sloane
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter of clinically suspected cases have no identifiable germline mutation in any MMR gene, a condition known as Lynch-like syndrome (LLS). MCM9 was recently identified as the DNA helicase in the mammalian MMR complex and loss of helicase activity results in microsatellite instability. We hypothesized that pathogenic variants in MCM9 may account for LLS...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886674/pri-mir-34b-c-rs4938723-polymorphism-is-associated-with-the-risk-of-childhood-acute-lymphoblastic-leukemia
#10
Mohammad Hashemi, Gholamreza Bahari, Majid Naderi, Simin Sadeghi-Bojd, Mohsen Taheri
MicroRNAs (miRNAs), small noncoding regulatory RNAs, are key regulators of gene expression. The impact of Pri-miR-34b/c rs4938723 variant on development of various cancers is still controversial. In the present study, we examined whether a rs4938723 variant located at the promoter region of Pri-miR-34b/c is associated with childhood ALL. A total of 110 children with acute lymphoblastic leukemia (ALL) and 120 healthy children were recruited to participate in this study. The rs4938723 variant was genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886673/in-silico-in-vitro-and-case-control-analyses-as-an-effective-combination-for-analyzing-brca1-and-brca2-unclassified-variants-in-a-population-based-sample
#11
Marta Rodríguez-Balada, Bàrbara Roig, Lourdes Martorell, Mireia Melé, Mònica Salvat, Elisabet Vilella, Joan Borràs, Josep Gumà
Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC). To this end, we conducted a combination of in silico prediction and cDNA splicing analyses of 13 BRCA1 and 10 BRCA2 VUS identified in our cohort as well as a case-control analysis in a population-based sample of 10 recurrent VUS. We observed consistent results between the in silico predictions and sequencing analyses for all analyzed VUS...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27865701/polymorphisms-and-haplotypes-of-the-cyp2b6-detoxification-gene-in-the-predisposition-of-acute-myeloid-leukemia-aml-and-induction-of-its-cytogenetic-abnormalities
#12
Aggeliki Daraki, Katerina Kakosaiou, Sophia Zachaki, Constantina Sambani, Vassiliki Aleporou-Marinou, Panagoula Kollia, Kalliopi N Manola
CYP2B6 is a polymorphic detoxification gene which plays a vital role in the degradation of genotoxic compounds. In this study we hypothesized that inadequate detoxification due to CYP2B6 polymorphisms may contribute to AML. To evaluate the potential impact of CYP2B6 polymorphisms on AML development and induction of its specific chromosomal abnormalities we studied C(777)A and A(785)G polymorphisms for the first time in AML. Furthermore, we investigated the co-existence of the above polymorphisms with G(516)T polymorphism to determine the CYP2B6 high-risk haplotypes in AML susceptibility...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27864007/six-generations-of-epidermolytic-palmoplantar-keratoderma-associated-with-a-krt9-r163w-mutation
#13
Peng Wang, Xiao-Jing Kang, Xiao-Hui Tang, Jian-Yong Liu, Wen-Zheng Li, Wei-Jia Wang, Sheng-Nan Liang, Yan-Yan Feng, Yuan Ding, Wen-Jing Chen
Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology.WES analysis was undertaken on two individuals from a large Uygur EPPK pedigree whose disease locus mapped to 17q21...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810077/chronic-myelogenous-leukemia-with-acquired-t-11-14-q13-q32-ccnd1-igh-a-case-report-and-literature-review
#14
M T Manda-Mapalo, P Khalili, D Quintana, I Rabinowitz, Q Y Zhang
Approximately 5-10% of chronic myeloid leukemia (CML) patients are found to have structural or numerical additional chromosomal abnormality (ACAs) in addition to the characteristic t(9;22)(q34;q11.2) BCR/ABL1 at the time of diagnosis. The prognostic significance of such additional chromosomal abnormalities has been controversial. Translocation t(11;14)(q13;q32) CCND1-IGH is typically associated with mantle cell lymphoma or a subset of plasma cell myeloma and is exceedingly rare in myeloid neoplasm. Here we report a unique case describing a patient found at diagnosis of chronic phase CML to have both the Philadelphia chromosome as well as t(11;14)-a rare cytogenetic combination...
October 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810076/genotyping-and-differential-expression-analysis-of-inflammasome-genes-in-sporadic-malignant-melanoma-reveal-novel-contribution-of-card8-il1b-and-il18-in-melanoma-susceptibility-and-progression
#15
Wanessa Cardoso da Silva, Telma Miyuki Oshiro, Daniel Coelho de Sá, Dilcilea D G S Franco, Cyro Festa Neto, Alessandra Pontillo
Sporadic melanoma malignancy is correlated with constitutive secretion of IL-1β in transformed melanocytes suggesting the involvement of inflammasome in melanoma. Common variants in inflammasome genes are known to affect IL-1β expression. To investigate the contribution of inflammasome genetics in melanoma development and progression and to identify a potential prognostic marker, the distribution of selected inflammasome SNPs was analysed in a Brazilian case/control cohort of sporadic malignant melanoma (SMM) and then the expression of inflammasome components was evaluated in melanoma biopsies...
October 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810075/co-localized-genomic-regulation-of-mirna-and-mrna-via-dna-methylation-affects-survival-in-multiple-tumor-types
#16
James D Doecke, Ying Wang, Keith Baggerly
Aberrant gene expression in cancer is due in part to irregular patterns of DNA methylation and miRNA target gene down regulation. Using data from The Cancer Genome Atlas (TGCA), we investigated co-localized mRNA, miRNA and DNA methylation data across 15 cancer types, focusing on cases where evidence for direct regulation was strong. Restricting attention to regions where miRNA markers co-localize within a corresponding mRNA transcript, we checked expression data from 2839 samples for 354 mRNAs, 389 miRNAs and 13,809 DNA methylation probes for correlations greater than an absolute 0...
October 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810074/clinical-and-molecular-cytogenetic-studies-in-ten-patients-with-hematological-malignancies-characterized-by-t-20-21-q11-q11-resulted-from-del-20q
#17
Chunxiao Wu, Jun Zhang, Shuxiao Bai, Jianxin Yao, Huiying Qiu, Yongquan Xue, Suning Chen, Yafang Wu, Juan Shen, Jinlan Pan
This study reports 10 patients with hematological malignances with t(20;21)(q11;q11) resulting from del(20q) (for example, der(20)del(20)(q11q13)t(20;21)(q11;q11) and der(21)t(20;21)(q11;q11)) and described their clinical features and the possible prognostic significance of this abnormality. The t(20;21)(q11;q11) was a rare but recurrent abnormality secondary to del(20q) besides i(20q-). The frequency of der(20)del(20)(q11q13)t(20;21)(q11;q11) among our patients with del(20q) was 2.4%. It was considered that the 20q deletion preceded translocation with chromosome 21...
October 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810073/the-emerging-role-of-long-non-coding-rnas-in-endometrial-cancer
#18
REVIEW
Konii Takenaka, Bei Jun Chen, Susan C Modesitt, Frances L Byrne, Kyle L Hoehn, Michael Janitz
The human genome is pervasively transcribed and approximately 98% of the genome is non-coding. Long non-coding RNAs (lncRNAs) are a heterogeneous group of RNA transcripts that are >200 nucleotides in length with minimal to no protein-coding potential. Similar to proteins, lncRNAs have important biological functions in both normal cells and disease states including many types of cancer. This review summarizes recent advances in our understanding of lncRNAs in cancer biology and highlights the potential for lncRNA as diagnostic biomarkers and therapeutics...
October 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810072/a-new-nfia-raf1-fusion-activating-the-mapk-pathway-in-pilocytic-astrocytoma
#19
Christina Westmose Yde, Astrid Sehested, Àngels Mateu-Regué, Olga Østrup, David Scheie, Karsten Nysom, Finn Cilius Nielsen, Maria Rossing
Pilocytic astrocytoma (PA) is one of the most common brain cancers among children and activation of the Mitogen-Activated Protein Kinase (MAPK) pathway is considered the hallmark. In the majority of cases, oncogenic BRAF fusions or BRAF V600E mutations are observed, while RAF1 or NF1 alterations are more rarely found. However, in some cases, no apparent cancer driver events can be identified. Here, we describe a novel fusion between the transcription factor nuclear factor 1A (NFIA) and Raf-1 proto-oncogene (RAF1) in a 5-year old boy with PA...
October 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27810071/myc-rearranged-b-cell-neoplasms-impact-of-genetics-on-classification
#20
Sabine Haberl, Torsten Haferlach, Anna Stengel, Sabine Jeromin, Wolfgang Kern, Claudia Haferlach
A cohort comprising 156 patients with B-cell neoplasms harboring an MYC rearrangement was analyzed with respect to phenotypic presentation, molecular markers (TP53, MYC and ID3) and additional cytogenetic abnormalities (concomitantly occurring BCL2, BCL6 and/or CCND1 rearrangements; double, triple or quadruple hit lymphomas = multiple hit lymphomas). MYC translocations occurred as single hit (only MYC rearranged, 63%) or multiple hit lymphoma (37%) and presented as acute leukemia (AL) (14%), Burkitt lymphoma (30%), chronic lymphocytic leukemia (CLL) (21%) or other mature B-cell neoplasms (35%)...
October 2016: Cancer Genetics
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