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Genes, Chromosomes & Cancer

Licia Iaccarino, Mariadomenica Divona, Tiziana Ottone, Laura Cicconi, Serena Lavorgna, Claudia Ciardi, Valentina Alfonso, Serena Travaglini, Luca Facchini, Giuseppe Cimino, Eros Di Bona, Maria Teresa Voso, Francesco Lo-Coco
Once the diagnostic suspicion of acute promyelocytic leukemia (APL) has been raised, international guidelines recommend prompt initiation of tailored therapy and supportive care, while awaiting for genetic confirmation of the diagnosis, and the identification of the specific PML/RARA isoform by RT-PCR. Depending on the PML breakpoint, usually located within intron 6, exon 6 or intron 3, different PML/RARA transcript isoforms may be generated, that is, long (bcr1), variant (bcr2) and short (bcr3), respectively...
November 12, 2018: Genes, Chromosomes & Cancer
Tilmann Bochtler, Mutlu Kartal-Kaess, Martin Granzow, Thomas Hielscher, Marco R Cosenza, Christel Herold-Mende, Anna Jauch, Alwin Krämer
Chromosomal instability is one of the hallmarks of cancer and caused by chromosome missegregation during mitosis, a process frequently associated with micronucleus formation. Micronuclei are formed when chromosomes fail to join a daughter nucleus during cell division and are surrounded by their own nuclear membrane. Although it has been commonly assumed that the gain or loss of specific chromosomes is random during compromised cell division, recent data suggest that the size of chromosomes can impact on chromosome segregation fidelity...
November 8, 2018: Genes, Chromosomes & Cancer
Diana Zheglo, Lena M Brueckner, Olga Sepman, Elisa M Wecht, Ekaterina Kuligina, Evgenij Suspitsin, Evgenij Imyanitov, Larissa Savelyeva
Common fragile sites (cFSs) represent parts of the normal chromosome structure susceptible to breakage under replication stress. Although only a small number of cFSs have been molecularly characterised, genomic damage of cFS genes appears to be critical for the development of various human diseases. In this study, we fine mapped the location of FRA14B and showed that the fragile region spans 765 kb at 14q23.3, containing the large gephyrin (GPHN) gene. The FRA14B sequence is enriched in perfect A/T>24 stretches and R-loop forming sequences (RLFS), and harbours a large palindromic motif in the core region...
November 8, 2018: Genes, Chromosomes & Cancer
Elisa Palumbo, Antonella Russo
Mechanisms and events related to common fragile site (CFS) instability are well-known in cancer cells. Here we argue that normal cells remain an important experimental model to address questions related to CFS instability in the absence of alterations in cell cycle and DNA Damage repair pathways, which are common features acquired in cancer. Furthermore, a major gap of knowledge concerns the stability of CFSs during gametogenesis. CFS instability in meiotic or postmeiotic stages of the germ cell line could generate chromosome deletions or large rearrangements...
November 1, 2018: Genes, Chromosomes & Cancer
Michelle Debatisse, Filippo Rosselli
The replication process should be as faithful as possible in order to minimize mutations but some regions of the genome, named fragile sites, are hypersensitive to replication stress and often involved in the generation of gross chromosome rearrangements. Common fragile sites (CFSs) are a type of fragile sites that nest within very large genes and display cell-type-dependent instability. Fragile or not, large genes replicate late in S-phase but their complete replication is specifically delayed upon replication fork slowing, only when they are transcribed...
November 1, 2018: Genes, Chromosomes & Cancer
Frederic Chibon, Tom Lesluyes, Thibaud Valentin, Sophie Le Guellec
Prognostication is a key issue for sarcoma patients' care since it triggers the therapeutic approach including chemotherapy, which is still not standard for localized patients. Current prognostic evaluation, internationally based on the FNCLCC grading system, has recently been improved by the CINSARC signature. It outperforms the histology-based grading system by identifying high-risk patients in every grade, even in those considered as having a good clinical outcome. CINSARC is an expression-based signature related to mitosis and chromosome integrity...
November 1, 2018: Genes, Chromosomes & Cancer
Mandy L Ballinger, Mark Pinese, David M Thomas
Sarcomas have a strong genetic etiology, and the study of families affected by sarcomas has informed much of what we now understand of modern cancer biology. The recent emergence of powerful genetic technologies has been democratized by both astonishing reductions in costs and increased throughput over the past decade. The application of these technologies in clinics is revealing a previously unappreciated and rich landscape of genetic cancer risk. In addition to identifying previously unrecognised carriers of both known and new cancer risk mutations, the use of genome-wide association studies and massively parallel sequencing is cataloguing complex and polygenic risk patterns, which collectively may explain between 15-25% of apparently sporadic sarcoma cases...
November 1, 2018: Genes, Chromosomes & Cancer
Peter J Cook, Andrea Ventura
The explosion in genome editing technologies that has occurred in the past decade has revolutionized cancer research and promises to improve cancer diagnosis and therapy. Ongoing efforts include engineering of CAR-T cells using CRISPR to generate a safer, more effective therapy with improved performance in immunologically "cold" tumors, as well as clever adaptations of CRISPR enzymes to allow fast, simple, and sensitive detection of specific nucleotide sequences. While still in their infancy, CRISPR-based cancer therapeutics and diagnostics are developing at an impressive speed and it is likely they will soon impact clinical practice...
November 1, 2018: Genes, Chromosomes & Cancer
Cristina Antonescu
No abstract text is available yet for this article.
November 1, 2018: Genes, Chromosomes & Cancer
William J Anderson, Jason L Hornick
Sarcomas encompass a broad group of malignant mesenchymal neoplasms, whose accurate diagnosis and classification relies on the integration of clinical, histopathological and molecular features. Our understanding of the latter has increased dramatically in recent years with the widespread application of high-throughput sequencing. Concomitantly, the role of immunohistochemistry has continued to expand, as many genomic alterations have been exploited by the development of novel diagnostic markers that act as surrogates for their detection...
November 1, 2018: Genes, Chromosomes & Cancer
Philip J Lupo, Austin L Brown, Vidal M Arroyo, Kala Y Kamdar, John W Belmont, Michael E Scheurer, Wendy M Leisenring, M Monica Gramatges, M Fatih Okcu, Yutaka Yasui, Kevin C Oeffinger, Leslie L Robison, Gregory T Armstrong, Smita Bhatia
Because survivors of pediatric acute lymphoblastic leukemia (ALL) are more likely to be obese than unaffected contemporaries, we compared DNA methylation profiles between normal-weight and obese survivors at adiposity-associated CpG sites previously-reported by epigenome-wide association studies (EWAS) of body mass index (BMI) in the general population. We selected 96 ALL survivors from the Childhood Cancer Survivor Study (CCSS): 48 obese (BMI ≥30.0 kg/m2 ) and 48 normal weight (BMI = 18.5-24.9 kg/m2 ). The Illumina HumanMethylation450 BeadChip was used to compare DNA methylation at 211 loci identified in EWAS of BMI in the general population...
November 1, 2018: Genes, Chromosomes & Cancer
Jean-Jacques Michaille, Hamdy Awad, Emily C Fortman, Alexander A Efanov, Esmerina Tili
MicroRNAs are small non-coding RNAs that modulate gene expression either directly, by impairing the stability and/or translation of transcripts that contain their specific target sequence, or indirectly through the targeting of transcripts that encode transcription factors, factors implicated in signal transduction pathways, or epigenetic regulators. Abnormal expression of microRNAs has been found in nearly all types of pathologies, including cancers. MiR-155 has been the first microRNA to be implicated in the regulation of the innate and adaptative immune responses, and its expression is either increased or decreased in a variety of liquid and solid malignancies...
November 1, 2018: Genes, Chromosomes & Cancer
Evi Lianidou, K Pantel
Liquid biopsy is based on minimally invasive blood tests and has a high potential to significantly change the therapeutic strategy in cancer patients, providing an extremely powerful and reliable non-invasive clinical tool for the individual molecular profiling of patients in real time. Liquid biopsy approaches include the analysis of circulating tumor cells (CTCs), circulating tumor DNA (ctDNA) circulating miRNAs and tumor-derived extracellular vesicles (EVs) that are shed from primary tumors and their metastatic sites into peripheral blood...
November 1, 2018: Genes, Chromosomes & Cancer
Tabish Hussain, Bin Liu, Morgan S Shrock, Terence Williams, C Marcelo Aldaz
WWOX is one of the largest human genes spanning over 1.11 Mbp in length at chr16q23.1-q23.2 and containing FRA16D, the second most common chromosomal fragile site (CFS). FRA16D is a hotspot of genomic instability, prone to breakage and for causing germline and somatic copy number variants (CNVs). Consequentially WWOX is frequent target for deletions in cancer. Esophageal, stomach, colon, bladder, ovarian and uterine cancers are those most commonly affected by WWOX deep focal deletions. WWOX deletions significantly correlate with various clinicopathological features in esophageal carcinoma...
October 23, 2018: Genes, Chromosomes & Cancer
Sabrina Croce, Tom Lesluyes, Lucile Delespaul, Benjamin Bonhomme, Gaëlle Pérot, Valérie Velasco, Laetitia Mayeur, Flora Rebier, Houda Ben Rejeb, Frédéric Guyon, W Glenn McCluggage, Anne Floquet, Denis Querleu, Camille Chakiba, Mojgan Devouassoux-Shisheboran, Eliane Mery, Laurent Arnould, Gerlinde Averous, Isabelle Soubeyran, Sophie Le Guellec, Frédéric Chibon
Mutations in the phosphorylation sites in exon 3 of CTNNB1 have been implicated in tumorigenesis in many organs. However, tumors harboring a CTNNB1 translocation are extremely rare and CTNNB1 translocation has never been reported in a uterine mesenchymal neoplasm. We report a novel translocation t(2;3)(p25;p22) involving the GREB1 (intron 8) and CTNNB1 (exon 3) genes in a uterine tumor resembling ovarian sex cord tumor (UTROSCT) which exhibited early extrauterine metastasis. The translocation was detected by RNA-sequencing and validated by RT-PCR and resulted in nuclear expression of β-catenin...
October 23, 2018: Genes, Chromosomes & Cancer
Ko Kudo, Hiroo Ueno, Tomohiko Sato, Kaori Kubo, Rika Kanezaki, Akie Kobayashi, Takuya Kamio, Shinya Sasaki, Kiminori Terui, Akira Kurose, Kenichi Yoshida, Yusuke Shiozawa, Tsutomu Toki, Seishi Ogawa, Etsuro Ito
The authors report two siblings with familial neuroblastoma with a germline R1275Q mutation of the tyrosine kinase domain of ALK. Whole exome sequencing and copy number variation assay were performed to investigate genetic alterations in the two cases. No common somatic mutations or gene polymorphisms related to the tumorigenesis of neuroblastoma were detected. A distinct pattern involving both segmental chromosomal alteration and MYCN amplification was detected. The diversity of biological behavior of familial neuroblastoma harboring a germline ALK mutation may depend on conventional prognostic factors, such as segmental chromosomal alterations and MYCN amplification, rather than additional acquired mutations...
October 22, 2018: Genes, Chromosomes & Cancer
Ying-Ying Yuan, Hua-Yuan Zhu, Jia-Zhu Wu, Yi Xia, Jin-Hua Liang, Wei Wu, Lei Cao, Li Wang, Lei Fan, Jian-Yong Li, Wei Xu
TP53 disruption is considered to be the most important prognostic factor in chronic lymphocytic leukemia (CLL), but not all patients with TP53 disruption have similar dismal outcomes. We evaluated the prognostic value of TP53 disruption in newly diagnosed CLL patients without treatment indications and identified prognostic factors in patients with TP53 disruption. Data of 305 newly diagnosed Chinese CLL patients was analyzed retrospectively. A total of 41 subjects (13%) had TP53 disruption, including 30 with 17p deletion (del(17p)) and 26 with TP53 mutations...
October 22, 2018: Genes, Chromosomes & Cancer
Yajuan Li, Sergey D Egranov, Liuqing Yang, Chunru Lin
Cancer metastasis is a multistep process that requires cancer cells to leave the primary site, survive in the blood stream, and finally colonize at a distant organ. It is the major cause of cancer morbidity and mortality. The organ specific colonization requires close interaction and communication between cancer cells and host organs. Non-coding RNAs represent the majority of the transcriptome, with long non-coding RNAs (lncRNAs) making up a significant proportion. It has been suggested that lncRNAs play a key role in all stages of tumorigenesis and metastasis...
October 22, 2018: Genes, Chromosomes & Cancer
Nan Song, Kyeezu Kim, Aesun Shin, Ji Won Park, Hee Jin Chang, Jiajun Shi, Qiuyin Cai, Dae Yong Kim, Wei Zheng, Jae Hwan Oh
Genome-wide association studies (GWAS) have identified multiple single-nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. To evaluate the potential influence of colorectal cancer susceptibility SNPs on disease prognosis, we investigated whether GWAS-identified colorectal cancer risk SNPs and polygenic risk scores (PRSs) might be associated with survival among colorectal cancer patients. A total of 1374 colorectal cancer patients were recruited from the Korean National Cancer Center. For genotyping, 30 colorectal cancer-susceptibility SNPs previously identified by GWAS were selected...
October 22, 2018: Genes, Chromosomes & Cancer
Brendan C Dickson, David Swanson
The past decade has witnessed remarkable progress in delineating the molecular pathogenesis of many mesenchymal neoplasms. This, in large part, is attributable to the application of next-generation sequencing. As these techniques decrease in cost, and increasingly support the use of routine clinical specimens - such as formalin-fixed paraffin-embedded tissue, and cytology samples - they are beginning to be routinely implemented in diagnostic pathology laboratories. The breath of testing possible by next-generation sequencing makes this a useful adjunct for pathologists, particularly with the emergence of targeted therapies...
October 22, 2018: Genes, Chromosomes & Cancer
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