abstract：:Studies have investigated the relationship between the X-ray cross- complementing group 3 (XRCC3) Thr241Met polymorphism and the risk of gynecological malignancies (GM) with the contradictory conclusions. Here, a meta-analysis was performed to provide clear picture of the association between Thr241Met and GM risk. The...

journal_title：Cancer genetics

authors： Yuan X,Wang Q,He G,Yu H

更新日期：2021-01-13 00:00:00

abstract：:Trisomy 3 has been previously reported in association with T-cell lymphomas and less commonly in different types of non-Hodgkin B-cell lymphomas. Trisomy 3 has also been reported in two cases of pediatric post-transplant lymphoproliferative disorder (PTLD). We present comprehensive clinicopathologic review of two pedi...

journal_title：Cancer genetics

authors： Shestakova A,Grove N,Said J,Song S,Quintero-Rivera F

更新日期：2020-10-01 00:00:00

abstract：:Karyotyping, the practice of visually examining and recording chromosomal abnormalities, is commonly used to diagnose diseases of genetic origin, including cancers. Karyotypes are recorded as text written in the International System for Human Cytogenetic Nomenclature (ISCN). Downstream analysis of karyotypes is conduc...

journal_title：Cancer genetics

authors： Abrams ZB,Li S,Zhang L,Coombes CE,Payne PRO,Heerema NA,Abruzzo LV,Coombes KR

更新日期：2020-10-01 00:00:00

abstract：:Myoepithelial tumors of soft tissue are rare, morphologically and biologically heterogeneous tumors. EWSR1 fusion is found in about half of the cases, followed by PLAG1 and FUS fusions. EWSR1-KLF17 fusion has so far been reported in one benign myoepithelial tumor. Using next generation sequencing we identified another...

journal_title：Cancer genetics

authors： Pižem J,Boštjančič E,Šekoranja D,Pleško J,Živec K

更新日期：2020-08-01 00:00:00

abstract：:Gain of function variants in SAMD9 cause MIRAGE syndrome, a rare Mendelian disorder that results in myeloid dysplastic syndrome (MDS), poor immune response, restricted growth, adrenal insufficiency, ambiguous genitalia, feeding difficulties and most often significantly reduced lifespan. In this study, we describe hist...

journal_title：Cancer genetics

authors： Rentas S,Pillai V,Wertheim GB,Akgumus GT,Nichols KE,Deardorff MA,Conlin LK,Li MM,Olson TS,Luo M

更新日期：2020-07-01 00:00:00

abstract：:Clinical management and risk stratification of B-lymphoblastic leukemia/ lymphoma (B-ALL/LBL) depend largely on identification of chromosomal abnormalities obtained using conventional cytogenetics and Fluorescence In Situ Hybridization (FISH) testing. In the last few decades, testing algorithms have been implemented t...

journal_title：Cancer genetics

authors： Akkari YMN,Bruyere H,Hagelstrom RT,Kanagal-Shamanna R,Liu J,Luo M,Mikhail FM,Pitel BA,Raca G,Shago M,Shao L,Smith LR,Smolarek TA,Yenamandra A,Baughn LB

更新日期：2020-05-01 00:00:00

abstract：:Circular RNAs (circRNAs), resulting from the non-canonical splicing of linear pre-mRNAs, have permanently altered our perspectives toward cancer recently, especially in carcinogenesis and cancer progression. However, the roles of circRNAs in esophageal squamous cell carcinoma (ESCC) remain largely unknown. In the curr...

journal_title：Cancer genetics

authors： Wang Q,Liu H,Liu Z,Yang L,Zhou J,Cao X,Sun H

更新日期：2020-01-01 00:00:00

abstract：:The interest in the potential application value of circulating cell free DNA (ccfDNA) has increased rapidly in recent years, as numerous researchers have demonstrated that the change of its level in the blood is associated with many diseases. Its potential role in cancer management is of particular concern. In compari...

journal_title：Cancer genetics

authors： Weng JL,Atyah M,Zhou CH,Ren N

更新日期：2019-11-01 00:00:00

abstract：:Detection of chromosomal translocation is a key component in diagnosis and management of acute myeloid leukemia (AML). Targeted RNA next-generation sequencing (NGS) is emerging as a powerful and clinically practical tool, but it depends on expression of RNA transcript from the underlying DNA translocation. Here, we sh...

journal_title：Cancer genetics

authors： Au CH,Ho DN,Ip BBK,Wan TSK,Ng MHL,Chiu EKW,Chan TL,Ma ESK

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND:Rearrangements of RET are drivers of oncogenesis, traceable in different cancer types as papillary thyroid carcinoma (PTC), non-small cell lung cancer, colorectal or breast cancer. Anchored multiplex PCR based next-generation sequencing (NGS) can detect RET rearrangements involving previously unknown partner...

journal_title：Cancer genetics

authors： Staubitz JI,Musholt TJ,Schad A,Springer E,Lang H,Rajalingam K,Roth W,Hartmann N

更新日期：2019-10-01 00:00:00

abstract：:Circulating cell-free DNA (ccfDNA) in plasma provides an easily accessible source of circulating tumor DNA (ctDNA) for detecting actionable genomic alterations that can be used to guide colorectal cancer (CRC) treatment and surveillance. The goal of this study was to test the feasibility of using a traditional amplico...

journal_title：Cancer genetics

authors： Shi X,Duose DY,Mehrotra M,Harmon MA,Hu P,Wistuba II,Kopetz S,Luthra R

更新日期：2019-09-01 00:00:00

abstract：:The bladder exstrophy-epispadias complex (BEEC) represents the severe end of uro-rectal malformation spectrum involving aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). Long-term complications in CBE are maligna...

journal_title：Cancer genetics

authors： Sharma A,Fröhlich H,Zhang R,Ebert AK,Rösch W,Reis H,Kristiansen G,Ellinger J,Reutter H

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Activating mutations of the tyrosine kinase receptor KIT have been described in both mastocytosis and gastrointestinal stromal tumors (GIST), but are usually found in separate domains and often respond differently to signal transduction inhibitors. We describe here a large family with both GIST, mastocytosis...

journal_title：Cancer genetics

authors： Halpern AL,Torphy RJ,McCarter MD,Sciotto CG,Glode LM,Robinson WA

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Usually, genes with a higher-than-expected number of somatic mutations in tumor samples are assumed to be cancer related. We identified genes with a fewer-than-expected number of somatic mutations - "untouchable genes". METHODS:To predict the expected number of somatic mutations, we used a linear regression...

journal_title：Cancer genetics

authors： Gorlov IP,Gorlova OY,Amos CI

更新日期：2019-02-01 00:00:00

abstract：:We analyzed the clinicopathological, immunohistochemical and cytogenetic features of 106 extranodal (EN) diffuse large B-cell lymphomas (DLBCLs) from stomach (34 cases), intestine (10), cervico-cephalic region (11), central nervous system (13), testes (21), skin (8), and miscellaneous sites (9). Hans' algorithm and th...

journal_title：Cancer genetics

authors： Magnoli F,Bernasconi B,Vivian L,Proserpio I,Pinotti G,Campiotti L,Mazzucchelli L,Sessa F,Tibiletti MG,Uccella S

更新日期：2018-12-01 00:00:00

abstract：:The utility of circulating DNA as a source of clinical biomarkers in blood is limited by its low concentration and small fragment size. Effective purification methods can maximize circulating DNA yield and contribute to the success of downstream protocols. We describe the evaluation of 4 commercial DNA purification ki...

journal_title：Cancer genetics

authors： Warton K,Graham LJ,Yuwono N,Samimi G

更新日期：2018-12-01 00:00:00

abstract：:Analysis of somatic mutations in solid tumors and hematologic malignancies using targeted next generation sequencing (NGS)-based assays has become part of routine oncology practice as well as clinical trials. The use of paired tumor-normal DNA samples increases confidence of somatic calls. NGS assays that utilize uniq...

journal_title：Cancer genetics

authors： Chen H,Luthra R,Patel KP,Routbort M,Rashid A,Roy-Chowdhuri S,Lazar A,Broaddus R,Manekia J,Singh RR,Yemelyanova A

更新日期：2018-10-01 00:00:00

abstract：:The prognostic significance of the ETV6/RUNX1-fusion and of the accompanying aberrations is disputable; whether co-existing sub-clones are responsible for delayed MRD-clearance and thus, moderate outcome, remains to be clarified. We studied, in a paediatric cohort of 119 B-ALLs, the relation between the ETV6/RUNX1 abe...

journal_title：Cancer genetics

authors： Ampatzidou M,Papadhimitriou SI,Paterakis G,Pavlidis D,Tsitsikas Κ,Kostopoulos IV,Papadakis V,Vassilopoulos G,Polychronopoulou S

更新日期：2018-08-01 00:00:00

abstract：:Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensiv...

journal_title：Cancer genetics

authors： Qian Y,Mancini-DiNardo D,Judkins T,Cox HC,Brown K,Elias M,Singh N,Daniels C,Holladay J,Coffee B,Bowles KR,Roa BB

更新日期：2017-10-01 00:00:00

abstract：:We report a novel somatic mutation in the kinase domain of JAK2 (R938Q) in a high-risk pediatric case of B-cell acute lymphoblastic leukemia (ALL). The patient developed on-therapy relapse at 12 months, and interestingly, the JAK2 locus acquired loss of heterozygosity during treatment resulting in 100% mutation load. ...

journal_title：Cancer genetics

authors： Sadras T,Heatley SL,Kok CH,McClure BJ,Yeung D,Hughes TP,Sutton R,Ziegler DS,White DL

更新日期：2017-10-01 00:00:00

abstract：:Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sang...

journal_title：Cancer genetics

authors： McVeigh TP,Cody N,Carroll C,Duff M,Farrell M,Bradley L,Gallagher D,McDevitt T,Green AJ

更新日期：2017-08-01 00:00:00

abstract：:We report a NUMA1-PDGFRB fusion in a myeloproliferative neoplasm with eosinophilia in a 61-year old man, with response to imatinib mesylate therapy. A t(5;11) chromosome translocation involving bands 5q32 and 11q13.4 was identified by metaphase chromosome analysis, and rearrangement of the platelet-derived growth fact...

journal_title：Cancer genetics

authors： Zou YS,Hoppman NL,Singh ZN,Sawhney S,Kotiah SD,Baer MR

更新日期：2017-04-01 00:00:00

abstract：: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 s...

journal_title：Cancer genetics

authors： Barresi V,Castorina S,Musso N,Capizzi C,Luca T,Privitera G,Condorelli DF

更新日期：2017-01-01 00:00:00

abstract：: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, sa...

journal_title：Cancer genetics

authors： Swaid F,Downs D,Rosemurgy AS

更新日期：2016-12-01 00:00:00

abstract：: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...

journal_title：Cancer genetics

authors： Nadimi M,Rahgozar S,Moafi A,Tavassoli M,Mesrian Tanha H

更新日期：2016-07-01 00:00:00

abstract：:This study aims to assess multi-gene panel testing in an ethnically diverse clinical cancer genetics practice. We conducted a retrospective study of individuals with a personal or family history of cancer undergoing clinically indicated multi-gene panel tests of 6-110 genes, from six commercial laboratories. The 475 p...

journal_title：Cancer genetics

authors： Ricker C,Culver JO,Lowstuter K,Sturgeon D,Sturgeon JD,Chanock CR,Gauderman WJ,McDonnell KJ,Idos GE,Gruber SB

更新日期：2016-04-01 00:00:00

abstract：:Comprehensive genetic profiling by massively parallel sequencing, commonly known as next generation sequencing (NGS), is becoming the foundation of personalized oncology. For sarcomas very few targeted treatments are currently in routine use. In clinical practice the preoperative diagnostic workup of soft tissue tumou...

journal_title：Cancer genetics

authors： Andersson C,Fagman H,Hansson M,Enlund F

更新日期：2016-04-01 00:00:00

abstract：:The development of targeted therapies based on specific genomic alterations has altered the treatment and management of lung and colorectal cancers. Chromosomal microarray (CMA) has allowed identification of copy number variations (CNVs) in lung and colorectal cancers in great detail, and next-generation sequencing (N...

journal_title：Cancer genetics

authors： Mukherjee S,Ma Z,Wheeler S,Sathanoori M,Coldren C,Prescott JL,Kozyr N,Bouzyk M,Correll M,Ho H,Chandra PK,Lennon PA

更新日期：2016-04-01 00:00:00

abstract：:Hepatocellular carcinoma (HCC) is rarely observed in children and adolescents, but it is reported to be correlated with hepatitis B virus (HBV+) infections. This correlation is not easily explained, because in adults, HBV infections lead to the development of HCC only after decades, not within a few years. In HBV+ adu...

journal_title：Cancer genetics

authors： Tan L,Meier T,Kuhlmann M,Xie F,Baier C,Zhu Z,Cong WM,Wilkens L

更新日期：2016-03-01 00:00:00

abstract：:Germline mutations in TP53 are the underlying defects in Li-Fraumeni syndrome (LFS) and its variant, Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders that are characterized by predisposition to multiple early onset cancers. Here, we identified rs78378222 (A > C), a rare variant that is located in the 3' u...

journal_title：Cancer genetics

authors： Macedo GS,Araujo Vieira I,Brandalize AP,Giacomazzi J,Inez Palmero E,Volc S,Rodrigues Paixão-Côrtes V,Caleffi M,Silva Alves M,Achatz MI,Hainaut P,Ashton-Prolla P

更新日期：2016-03-01 00:00:00

abstract：:We describe a unique case of a woman with acute myeloid leukemia with a new, previously undescribed translocation, t(11;18)(q23;q21.2), affecting the KMT2A (MLL) gene and resulting in an KMT2A(MLL)-ME2 fusion. This disease occurred secondarily following chemotherapy for a different acute myeloid leukemia with the recu...

journal_title：Cancer genetics

authors： Szotkowski T,Jarošová M,Zimmermannová O,Meyer C,Marschalek R,Zuna J,Hubáček J,Indrák K

更新日期：2015-12-01 00:00:00

abstract：:Leiomyosarcomas are malignant mesenchymal tumors that recapitulate smooth muscle cell differentiation. Tumors are characterized by a genetic heterogeneity with complex karyotypes without a tumor-specific genetic aberration. Their pathobiology is still poorly understood and no specific targeted treatment is currently a...

journal_title：Cancer genetics

authors： de Graaff MA,de Jong D,Briaire-de Bruijn IH,Hogendoorn PC,Bovée JV,Szuhai K

更新日期：2015-11-01 00:00:00

abstract：:Hepatitis B virus (HBV) infection plays a major role in hepatocellular carcinoma (HCC) development. Much evidence suggests that HBV also maintains its pro-oncogenic properties in cases of occult HBV infection (OBI). Mutations of the beta-catenin and p53 genes (CTNNB1 and TP53, respectively) may be associated with HCC ...

journal_title：Cancer genetics

authors： Saitta C,Lanza M,Bertuccio A,Lazzara S,Navarra G,Raimondo G,Pollicino T

更新日期：2015-10-01 00:00:00

abstract：:Chromosome translocations involving an immunoglobulin (IG) locus and another gene, either BCL or MYC, are common events in B-cell lymphoma. Occasionally, two IG loci, one with BCL and the other with MYC, are simultaneously involved; such cases are classified as double-hit (DH) lymphomas. These tumors often show interm...

journal_title：Cancer genetics

authors： Koduru PR,Chen W,Garcia R,Fuda F

更新日期：2015-06-01 00:00:00

abstract：:It is well documented that among subgroups of B-cell acute lymphoblastic leukemia (B-ALL), the genetic profile of the leukemic blasts has significant impact on prognosis and stratification for therapy. Recent studies have documented the power of microarrays to screen genome-wide for copy number aberrations (CNAs) and ...

journal_title：Cancer genetics

authors： Baughn LB,Biegel JA,South ST,Smolarek TA,Volkert S,Carroll AJ,Heerema NA,Rabin KR,Zweidler-McKay PA,Loh M,Hirsch B

更新日期：2015-01-01 00:00:00

abstract：:The heritability of colorectal cancer (CRC) is incompletely understood, and the contribution of undiscovered rare variants may be important. In search of rare disease-causing variants, we exome sequenced 22 CRC patients who were diagnosed before the age of 40 years. Exome sequencing data from 95 familial CRC patients ...

journal_title：Cancer genetics

authors： Tanskanen T,Gylfe AE,Katainen R,Taipale M,Renkonen-Sinisalo L,Järvinen H,Mecklin JP,Böhm J,Kilpivaara O,Pitkänen E,Palin K,Vahteristo P,Tuupanen S,Aaltonen LA

更新日期：2015-01-01 00:00:00

abstract：:Advancements in treatment of chronic myeloid leukemia (CML) turned this formerly fatal neoplasm into a manageable chronic condition. Therapy with tyrosine kinase inhibitors (TKIs) often leads to significant reduction of disease burden, known as the deep molecular response (DMR). Herein, we decided to analyze the cohor...

journal_title：Cancer genetics

authors： Gniot M,Lewandowski K,Ratajczak B,Lewandowska M,Lehmann-Kopydłowska A,Jarmuż-Szymczak M,Komarnicki M

更新日期：2014-10-01 00:00:00

abstract：:We present a meta-analysis of somatic copy number alterations (CNAs) from 11 publications that examined 662 prostate cancer patient samples, which were derived from 546 primary and 116 advanced tumors. Normalization, segmentation, and identification of corresponding CNAs for meta-analysis was achieved using establishe...

journal_title：Cancer genetics

authors： Williams JL,Greer PA,Squire JA

更新日期：2014-10-01 00:00:00

abstract：:DLX4 is a homeobox gene strongly implicated in breast tumor progression and invasion. Our main objective was to determine the DLX4 copy number status in sentinel lymph node (SLN) metastasis to assess its involvement in the initial stages of the axillary metastatic process. A total of 37 paired samples of SLN metastasi...

journal_title：Cancer genetics

authors： Torresan C,Oliveira MM,Pereira SR,Ribeiro EM,Marian C,Gusev Y,Lima RS,Urban CA,Berg PE,Haddad BR,Cavalli IJ,Cavalli LR

更新日期：2014-05-01 00:00:00

abstract：:We investigated genetic anticipation of breast or ovarian cancer in patients with familial breast cancer. Among 201 patients with breast cancer who had a family history of breast or ovarian cancer, 95 families had affected familial members in the previous generation. Of these families, 2 were excluded because of insuf...

journal_title：Cancer genetics

authors： Noh JM,Choi DH,Baek H,Kim MJ,Park H,Huh SJ,Park W,Nam SJ,Lee JE,Kil WH,Haffty BG

更新日期：2014-04-01 00:00:00