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Cancer Genetics

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https://www.readbyqxmd.com/read/28279309/allele-specific-wild-type-tp53-expression-in-the-unaffected-carrier-parent-of-children-with-li-fraumeni-syndrome
#1
Jeffrey S Buzby, Shirley A Williams, Lana Schaffer, Steven R Head, Diane J Nugent
Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder where an oncogenic TP53 germline mutation is passed from parent to child. Tumor protein p53 is a key tumor suppressor regulating cell cycle arrest in response to DNA damage. Paradoxically, some mutant TP53 carriers remain unaffected, while their children develop cancer within the first few years of life. To address this paradox, response to UV stress was compared in dermal fibroblasts (dFb) from an affected LFS patient vs. their unaffected carrier parent...
February 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28279308/detection-of-somatic-variants-in-peripheral-blood-lymphocytes-using-a-next-generation-sequencing-multigene-pan-cancer-panel
#2
Bradford Coffee, Hannah C Cox, John Kidd, Scott Sizemore, Krystal Brown, Susan Manley, Debora Mancini-DiNardo
Next Generation Sequencing (NGS) multigene panels, which are routinely used to assess hereditary cancer risk, can detect both inherited germline variants and somatic variants in cancer-risk genes. We evaluated the frequency and distribution of likely somatic Pathogenic and Likely Pathogenic variants (PVs) detected in >220,000 individuals who underwent clinical testing with a 25-gene panel between September 2013 and March 2016. Likely somatic PVs are defined as variants with NGS read frequencies from 10% to 30%...
February 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28279307/fas-c-671a-g-polymorphism-and-cervical-cancer-risk-a-case-control-study-and-meta-analysis
#3
Shing Cheng Tan, Mohd Pazudin Ismail, Daniel Roza Duski, Nor Hayati Othman, Ravindran Ankathil
This study aimed to investigate the association between FAS c.-671A>G polymorphism and cervical cancer risk in a case-control setting, followed by a meta-analysis of the published literatures. The case-control study involved genotyping of the polymorphism in 185 histopathologically confirmed cervical cancer patients and 209 cancer-free female controls utilizing PCR-RFLP technique, followed by logistic regression analyses. Meta-analysis was then conducted under homozygous, heterozygous, dominant, recessive and allele contrast models to combine data from 12 studies which consisted of 2798 cases and 3039 controls...
February 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28279306/taf15-znf384-fusion-gene-in-childhood-mixed-phenotype-acute-leukemia
#4
LETTER
Li Yao, Jiannong Cen, Jinlan Pan, Dandan Liu, Yong Wang, Zixing Chen, Changgeng Ruan, Suning Chen
No abstract text is available yet for this article.
February 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28212810/chromosomal-instability-analysis-and-regional-tumor-heterogeneity-in-colon-cancer
#5
Vincenza Barresi, Sergio Castorina, Nicolò Musso, Carmela Capizzi, Tonia Luca, Giovanna Privitera, Daniele Filippo Condorelli
Chromosomal instability (CIN) is classically defined as an increase in the rate at which numerical or structural chromosomal aberrations are acquired in a cancer cell. The number of somatic copy number abnormalities (CNAs) revealed by high resolution genomic array can be considered as a surrogate marker for CIN, but several points, related to sample processing and data analysis, need to be standardized. In this work we analyzed 51 CRC samples and matched normal mucosae by whole genome SNP arrays and compared different bioinformatics tools in order to identify broad (>25% of a chromosomal arm) and focal somatic copy number abnormalities (BCNAs and FCNAs respectively)...
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28212809/inactivating-frameshift-mutation-of-putative-tumor-suppressor-genes-pla2r1-and-srpk1-in-gastric-and-colorectal-cancers
#6
LETTER
Ju Hwa Lee, Yun Sol Jo, Min Sung Kim, Nam Jin Yoo, Sug Hyung Lee
No abstract text is available yet for this article.
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28212808/next-generation-repeat-free-fish-probes-for-dna-amplification-in-glioblastoma-in-vivo-improving-patient-selection-to-mdm2-targeted-inhibitors
#7
Matteo Brunelli, Albino Eccher, Luca Cima, Tobia Trippini, Serena Pedron, Marco Chilosi, Mattia Barbareschi, Aldo Scarpa, Giampietro Pinna, Giulio Cabrini, Sara Pilotto, Luisa Carbognin, Emilio Bria, Giampaolo Tortora, Adele Fioravanzo, Nicola Schiavo, Mario Meglio, Teodoro Sava, Laura Belli, Guido Martignoni, Claudio Ghimenton
A next-generation FISH probe mapping to the MDM2 locus-specific region has recently been designed. The level of MDM2 gene amplification (high versus low) may allow selection of patients for cancer treatment with MDM2 inhibitors and may predict their responsiveness. We investigated the spectrum of MDM2 gene alterations using the new probes in vivo after visualizing single neoplastic cells in situ from a series of glioblastomas. Signals from next-generation repeat-free FISH interphase probes were identified in tissue microarrays that included 3 spots for each of the 48 cases...
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28212807/prevalence-of-brca1-and-brca2-large-genomic-rearrangements-in-tunisian-high-risk-breast-ovarian-cancer-families-implications-for-genetic-testing
#8
Aouatef Riahi, Habiba Chabouni-Bouhamed, Maher Kharrat
Germline mutations in the BRCA tumor suppressor genes account for a substantial proportion of hereditary breast/ovarian cancer. However, this contribution is lower than expected. This underestimation can partly be explained by the BRCA alterations missed by using Sanger sequencing methods. Thus, large genomic rearrangements (LGRs) in BRCA1 and BRCA2 are responsible for 4-28% of all inherited BRCA mutations. In this study, Multiplex ligation-dependent probe amplification (MLPA) assay was used for detection of large rearrangements of BRCA1 and BRCA2 genes in 36 unrelated high-risk breast/ovarian cancer patients negative for BRCA1/2 point mutations...
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28212806/clonal-evolution-as-detected-by-interphase-fluorescence-in-situ-hybridization-is-associated-with-worse-overall-survival-in-a-population-based-analysis-of-patients-with-chronic-lymphocytic-leukemia-in-british-columbia-canada
#9
Steven J Huang, Krystal Bergin, Adam C Smith, Alina S Gerrie, Helene Bruyere, Chinmay B Dalal, Daniele K Sugioka, Monica Hrynchak, Khaled M Ramadan, Aly Karsan, Tanya L Gillan, Cynthia L Toze
This study evaluates prognostic markers as predictors of clonal evolution (CE) and assesses the impact of CE on overall survival (OS) in a population-based cohort of 159 consecutive eligible patients with chronic lymphocytic leukemia (CLL) obtained from the British Columbia Provincial CLL Database. CE was detected by interphase fluorescence in situ hybridization (FISH) in 34/159 patients (21%) with 65% of CE patients acquiring deletion 17p or 11q. CD38 positive status (≥30%) on flow cytometry predicted 2...
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/27931696/special-issue-editorial-cancer-genetics
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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