Cancer Genetics最新文献

{"title":"Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment","authors":"Leila Jahangiri","doi":"10.1016/j.cancergen.2024.09.001","DOIUrl":"10.1016/j.cancergen.2024.09.001","url":null,"abstract":"<div><p>Neuroblastoma is a paediatric malignancy of the sympathoadrenal or Schwann cells derived from the neural crest. Risk stratification in neuroblastoma is informed by MYCN amplification, age, stage, ploidy, and segmental chromosomal alterations. High-risk cases bear dismal overall survival. A panel of pathology and imaging modalities are utilised for diagnosis, while treatment strategies depend on the risk group. Despite this, relapse can occur in 50% of high-risk neuroblastoma patients in remission post-treatment. Liquid biopsies typically comprise the sampling of the peripheral blood and are attractive since they are less invasive than surgical tumour tissue biopsies. Liquid biopsies retrieve circulating tumour DNA and circulating tumour RNA released by tumours in addition to circulating tumour cells. These biological materials can be utilised to analyse tumour genetic alterations. Monitoring tumour-derived molecular information can assist diagnostics, targeted therapy selection, and treatment while reflecting minimal residual disease, relapse, and recurrence. This study aims to review the latest research on liquid biopsies for disease diagnosis, assessing treatment efficacy, minimal residual disease, relapse, and recurrence in neuroblastoma. A deeper understanding of the application of liquid biopsies could inform future prospective clinical trials, and in time, facilitate their routine implementation in clinical practice.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"288 ","pages":"Pages 32-39"},"PeriodicalIF":1.4,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2210776224001224/pdfft?md5=dab4fb1d2596e6257a5b64de3f226b7e&pid=1-s2.0-S2210776224001224-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BMS345541 is predicted as a repurposed drug for the treatment of TMZ-resistant Glioblastoma using target gene expression and virtual drug screening","authors":"Rojalin Nayak,&nbsp;Bibekanand Mallick","doi":"10.1016/j.cancergen.2024.08.082","DOIUrl":"10.1016/j.cancergen.2024.08.082","url":null,"abstract":"<div><p>Glioblastoma (GBM) is one of the most aggressive and fatal cancers, for which Temozolomide (TMZ) chemo drug is commonly used for its treatment. However, patients gradually develop resistance to this drug, leading to tumor relapse. In our previous study, we have identified lncRNAs that regulate chemoresistance through the competing endogenous RNA (ceRNA) mechanism. In this study, we tried to find FDA-approved drugs against the target proteins of these ceRNA networks through drug repurposing using differential gene expression profiles, which could be used to nullify the effect of lncRNAs and promote the sensitivity of TMZ in GBM. We performed molecular docking and simulation studies of predicted repurposed drugs and their targets. Among the predicted repurposed drugs, we found BMS345541 has a higher binding affinity towards its target protein - FOXG1, making it a more stable complex with FOXG1-DNA. The ADMET analysis of this drug BMS345541 shows a higher half-life and lower cytotoxicity level than other predicted repurposed drugs. Hence, we conjecture that this could be a better drug for increasing the sensitivity of TMZ for treating GBM patients.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"288 ","pages":"Pages 20-31"},"PeriodicalIF":1.4,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142099487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline variant profiling of CHEK2 sequencing variants in breast cancer patients","authors":"Claire McCarthy-Leo ,&nbsp;Scott Baughan ,&nbsp;Hunter Dlugas ,&nbsp;Prisca Abraham ,&nbsp;Janice Gibbons ,&nbsp;Carolyn Baldwin ,&nbsp;Sarah Chung ,&nbsp;Gerald L. Feldman ,&nbsp;Gregory Dyson ,&nbsp;Russell L. Finley Jr. ,&nbsp;Michael A. Tainsky","doi":"10.1016/j.cancergen.2024.08.081","DOIUrl":"10.1016/j.cancergen.2024.08.081","url":null,"abstract":"<div><p>The cell cycle checkpoint kinase 2 (<em>CHEK2</em>) is a tumor suppressor gene coding for a protein kinase with a role in the cell cycle and DNA repair pathways. Variants within <em>CHEK2</em> are associated with an increased risk of developing breast, colorectal, prostate and several other types of cancer. Comprehensive genetic risk assessment leads to early detection of hereditary cancer and provides an opportunity for better survival. Multigene panel screening can identify the presence of pathogenic variants in hereditary cancer predisposition genes (HCPG), including <em>CHEK2</em>. Multigene panels, however, also result in large quantities of genetic data some of which cannot be interpreted and are classified as variants of uncertain significance (VUS). A VUS provides no information for use in medical management and leads to ambiguity in genetic counseling. In the absence of variant segregation data, in vitro functional analyses can be used to clarify variant annotations, aiding in accurate clinical management of patient risk and treatment plans. In this study, we performed whole exome sequencing (WES) to investigate the prevalence of germline variants in 210 breast cancer (BC) patients and conspicuously among the many variants in HCPGs that we found, we identified 16 individuals with non-synonymous or frameshift <em>CHEK2</em> variants, sometimes along with additional variants within other BC susceptibility genes. Using this data, we investigated the prevalence of these <em>CHEK2</em> variants in African American (AA) and Caucasian (CA) populations identifying the presence of two novel frameshift variants, c.1350delA (p.Val451Serfs*18) and c.1528delC (p.Gln510Argfs*3) and a novel missense variant, c262C&gt;T (p.Pro88Ser). Along with the current clinical classifications, we assembled available experimental data and computational predictions of function for these <em>CHEK2</em> variants, as well as explored the role these variants may play in polygenic risk assessment.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"288 ","pages":"Pages 10-19"},"PeriodicalIF":1.4,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142087053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses","authors":"Runjun D. Kumar ,&nbsp;Liesbeth Vossaert ,&nbsp;Weimin Bi ,&nbsp;Nichole Owen ,&nbsp;Rachel E. Rau ,&nbsp;Hannah L. Helber ,&nbsp;Ghadir Sasa ,&nbsp;Jacquelyn Reuther ,&nbsp;Angshumoy Roy ,&nbsp;Kevin E. Fisher","doi":"10.1016/j.cancergen.2024.08.001","DOIUrl":"10.1016/j.cancergen.2024.08.001","url":null,"abstract":"<div><p>Recognition of patients with multiple diagnoses, and the unique challenges they pose to clinicians and laboratorians, is increasing rapidly as genome-wide genetic testing grows in prevalence. We describe a unique patient with dual diagnoses of <em>PDCD10</em>-related cerebral cavernous malformations and <em>ETV6</em>-related thrombocytopenia with associated neutropenia. She presented with brain abscesses as an infant, which is highly atypical for these disorders in isolation. Confirming her diagnoses depended on thorough phenotyping both during and after her acute illness. Furthermore, the causative variant in <em>ETV6</em> is a novel single-exon deletion that required multiple modalities with manual review to confirm, including unique use of polymorphic nucleotides in trio exome data. She illustrates the special challenges of patients with multiple diagnoses, and the multiple tools clinicians and laboratorians must use to treat them.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"288 ","pages":"Pages 5-9"},"PeriodicalIF":1.4,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142044372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focal cortical dysplasia type IIIb associated with a KRAS-mutant ganglioglioma","authors":"Elena A. Repnikova ,&nbsp;Lei Zhang ,&nbsp;Brent A. Orr ,&nbsp;Jennifer Roberts ,&nbsp;Timothy Zinkus ,&nbsp;Melissa Gener ,&nbsp;Alexander Kats","doi":"10.1016/j.cancergen.2024.07.004","DOIUrl":"10.1016/j.cancergen.2024.07.004","url":null,"abstract":"","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"288 ","pages":"Pages 1-4"},"PeriodicalIF":1.4,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141984898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"16. An evaluation of clinical significance of the TP53 polyadenylation signal-disrupting variant rs78378222-G","authors":"Dayo Shittu,&nbsp;Henoke Shiferaw,&nbsp;Tracey Ferrara,&nbsp;Anas Awan,&nbsp;Huan Mo","doi":"10.1016/j.cancergen.2024.08.018","DOIUrl":"10.1016/j.cancergen.2024.08.018","url":null,"abstract":"<div><div><em>TP53</em> germline pathogenic variants (Li-Fraumeni syndrome) and somatic mutations are important in tumorigenesis and tumor classifications. However, the clinical significance of the <em>TP53</em> polyadenylation signal-disrupting variant rs78378222-G remains unclear. To address this, we employed a dual approach.</div><div>First, we used All of Us Research Program data to evaluate its disease association with phenome-wide association studies (PheWAS). In the trans-ancestry PheWAS (n = 245,378, 3383 were heterozygous and &lt;20 were homozygous), the G-allele was significantly associated with uterine leiomyoma (OR = 1.75 [1.42-2.16]). In Blacks (n = 56,911, allele frequency [AF] = 0.00171), it was significantly associated with anal and rectal polyps (11.97 [4.46-32.07]), and nominally associated with hyperparathyroidism, head and neck cancer, and primary cardiomyopathies. In Whites (n = 133,572, AF = 0.0112), it was significantly associated with benign neoplasm of the uterus (1.61 [1.27-2.03]) and in Hispanics (n = 45,032, AF = 0.00276), with uterine leiomyoma (3.82 [2.11-6.84]).</div><div>Next, we imputed rs78378222 with microarray data from the Cancer Genomic Atlas (TCGA, overall carrier rate 1.9%). Adult glioma (GBMLGG) had the highest carrier rate for the G-allele (4.6% in IDH-wildtype and 3.2% in IDH-mutant). There was no evidence of differential prognosis or rates of <em>TP53</em> mutation/17p loss among carriers within the evaluated tumor types that had enough carriers for analysis.</div><div>Our preliminary analyses demonstrate that <em>TP53</em> rs78378222-G allele was consistently associated with higher risk of neoplasms and tissue overgrowth in multiple ancestry groups. However, its role in cancer classification and prognostication may be limited, necessitating further validation with more data.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"286 ","pages":"Page S6"},"PeriodicalIF":1.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"17. Intrachromosomal amplification of chromosome 21 as the sole chromosomal aberration in a primary AML patient","authors":"Leila Youssefian,&nbsp;Alden Huang,&nbsp;Sung-Hae L. Kang,&nbsp;Niroshini Senaratne,&nbsp;Thomas Lee,&nbsp;Fumin Lin","doi":"10.1016/j.cancergen.2024.08.019","DOIUrl":"10.1016/j.cancergen.2024.08.019","url":null,"abstract":"<div><div>Intrachromosomal amplification of chromosome 21 (iAMP21), is a rare but recurrent acquired clonal chromosome aberration observed in acute myeloid leukemia (AML), usually associated with chemoresistance and poor prognosis. The vast majority of AML patients with iAMP21 also present with a complex karyotype and <em>TP53</em> mutations, which are known markers for poor prognosis and interfere with understanding the clinical impact of iAMP21 in AML. We present a primary AML patient who had a bone marrow karyotype study showing additional material of unknown origin on 21q as the sole abnormality. The AML and high risk MDS FISH panel studies did not identify any abnormalities, including a normal signal pattern for <em>RUNX1</em>. Additional FISH studies for chromosome 21 detected five copies of the 21q22.13q22.2-specific signals on the derivative chromosome 21, suggestive of iAMP21. Chromosomal microarray analysis confirmed amplification of 21q, which included <em>ERG</em> and <em>ETS2</em> genes but not <em>RUNX1</em>. The hematologic malignancy NGS panel revealed <em>KIT</em> and <em>U2AF1</em> mutations. This 58-year-old male patient presented with pancytopenia and a hypercellular marrow with increased myeloblasts. This patient's disease was refractory to induction and salvage chemotherapy. While the clinical course showed similar chemoresistance as observed in other 21q-amplified AML, there is no concurrent <em>TP53</em> aberration or complex karyotype observed in this case. This case demonstrates that iAMP21 may be an early driver for AML tumorigenesis, and these results implicate <em>ERG</em> and/or <em>ETS2</em> instead of <em>RUNX1</em> as the critical gene(s) of iAMP21 in AML. Further characterization of iAMP21 in AML and may provide opportunities for alternative therapies.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"286 ","pages":"Page S6"},"PeriodicalIF":1.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"8. Reduced subclone diversity in clonal cytopenia of undetermined significance compared to myelodysplastic syndrome","authors":"Sridhar Nonavinkere Srivatsan ,&nbsp;Monique Chavez ,&nbsp;Christopher Miller ,&nbsp;Andrew Menssen ,&nbsp;Ajay Khanna ,&nbsp;Catrina Fronick ,&nbsp;Robert Fulton ,&nbsp;Sharon Heath ,&nbsp;Constantine Logothetis ,&nbsp;Tasha Burton ,&nbsp;Victoria Donaldson ,&nbsp;Claudia Cabrera ,&nbsp;Ravi Vij ,&nbsp;Eric Duncavage ,&nbsp;Jin Shao ,&nbsp;Raya Saba ,&nbsp;Megan Jacoby ,&nbsp;Matthew J. Walter","doi":"10.1016/j.cancergen.2024.08.010","DOIUrl":"10.1016/j.cancergen.2024.08.010","url":null,"abstract":"<div><div>Clonal cytopenias of undetermined significance (CCUS) is a precursor state to myelodysplastic syndrome (MDS), a blood cancer, and is distinguished solely on the absence of morphologic dysplasia, which has diagnostic variability. Determining differences in clonal architecture (total number and size of clones) may provide an objective assessment of disease status. We hypothesized that CCUS patients will have reduced molecular disease burden with fewer subclones compared to MDS patients suggesting that MDS is at higher risk of progressing to secondary acute myeloid leukemia (sAML). We performed whole genome sequencing with higher exome coverage (eWGS) on bone marrow (n=58) or peripheral blood (n=4) and paired normal DNA from baseline banked samples from patients with CCUS (n=13), MDS (n=29), and sAML (n=20) to define clonal architecture. While the median number of total validated somatic mutations per sample was not different between CCUS, MDS, and sAML, the median variant allele frequency of the dominant clone was lower in CCUS (21.3%) compared to MDS (39.2%, p&lt;0.05) and sAML (45.2%, p&lt;0.001). Additionally, the proportion of patients without subclones was higher for CCUS (5/13 [38.5%]) compared to MDS and sAML (4/29 [13.8%] and 0/20 [0%], respectively, p ≤ 0.0006), suggesting that CCUS samples have reduced subclonal diversity compared to MDS. The data suggest that leveraging clonal architecture and subclonal diversity in the evaluation of patients with low blood counts could provide an objective measure to characterize and monitor disease burden in CCUS and MDS, and potentially assess risk of sAML progression, rather than relying on dysplasia alone.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"286 ","pages":"Page S3"},"PeriodicalIF":1.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"9. Best practices for testing and reporting of FISH studies in multiple myeloma: Recommendations from the CGC working group","authors":"Xinyan Lu ,&nbsp;Erica F. Andersen ,&nbsp;Rahul Banerjee ,&nbsp;Celeste C. Eno ,&nbsp;Patrick R. Gonzales ,&nbsp;Angela M. Lager ,&nbsp;Patricia M. Miron ,&nbsp;Trevor Pugh ,&nbsp;Fabiola Quintero-Rivera ,&nbsp;Virginia C. Thurston ,&nbsp;Daynna J. Wolff ,&nbsp;Jian Zhao ,&nbsp;Linda B. Baughn","doi":"10.1016/j.cancergen.2024.08.011","DOIUrl":"10.1016/j.cancergen.2024.08.011","url":null,"abstract":"<div><h3>Purpose</h3><div>Multiple myeloma (MM) remains an incurable plasma cell malignancy with recurrent primary and secondary cytogenetic abnormalities having prognostic and therapeutic implications. Fluorescence in situ hybridization (FISH) is the gold-standard assay to detect these genetic abnormalities. However, FISH testing for MM is heterogeneous among clinical laboratories, with differences in plasma cell isolation, FISH panel design, and reporting practices.</div></div><div><h3>Methods</h3><div>The CGC Plasma Cell Neoplasm workgroup conducted a survey targeting the international MM clinician community on utilization of FISH and result reporting/interpretation.</div></div><div><h3>Results</h3><div>There were 102 survey responses representing 14 countries. Most (74%) MM clinicians utilize their own in-house FISH testing service with 81% reporting plasma cell enrichment was performed by their lab. 90% of respondents desired FISH at diagnosis, 72% during disease progression and 40% for treatment/response assessment. The most-requested FISH probes included: TP53 (99%), t(4;14) (92%), 1q gain/amplification (91%), t(14;16) (90%), t(11;14) (85%), t(14;20) (76%), 1p deletion (67%), while FISH for ploidy status, deletion 13q/-13, t(6;14), MYC rearrangement, and other rare IG rearrangements were ranked lower in importance (10-50%). About 40% of respondents were dissatisfied with clarity, summary, and interpretation of FISH reports. When challenged to interpret a FISH report, only 2% of responders interpreted results correctly and the majority were either unsure or misinterpreted the report.</div></div><div><h3>Conclusion</h3><div>Our study showed that significant improvements are needed by clinical lab directors in MM FISH report clarity to benefit both the clinician and patient. We propose standardization of best MM FISH practices and reporting.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"286 ","pages":"Pages S3-S4"},"PeriodicalIF":1.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"75. Copy number variation heterogeneity as the measure for biological consistency in hierarchical cancer classifications","authors":"Ziying Yang,&nbsp;Paula Carrio-Cordo,&nbsp;Michael Baudis","doi":"10.1016/j.cancergen.2024.08.077","DOIUrl":"10.1016/j.cancergen.2024.08.077","url":null,"abstract":"<div><div>Cancers are heterogeneous diseases with unifying features of abnormal and consuming cell growth, where the deregulation of normal cellular functions is initiated by the accumulation of genomic mutations in cells of - potentially - any organ. At diagnosis malignant tumors present with patterns of somatic genome variants on diverse levels of heterogeneity. Among the different types of genomic alterations, copy number variants (CNV) represent a distinct, near-ubiquitous class of structural variants. Cancer classifications such as the National Cancer Institute Thesaurus (NCIt) provide large sets of hierarchical cancer classification vocabularies and promote data interoperability and ontology-driven computational analysis.</div><div>However, high heterogeneity in cellular phenotypes and dynamic plasticity of tumor microenvironments make tumor categorization a demanding and complicated task with the need to balance between categorical classifications and individual, 'personalized' feature definitions. To find out how categorical classifications reflect biological facts, we conducted a meta-analysis of inter-sample genomic heterogeneity at different levels of the classification hierarchies based on genome-spanning CNV profiles from 97,142 individual samples across 512 hierarchical cancer entities in the progenetix database. The use of a large data set of individual cancer samples allows for a greater exploration of genomic tumor heterogeneity between and inside given diagnostic concepts. With this study, we applied hierarchical clustering to quantify the heterogeneity among cancer entities through a refined measure of hamming dissimilarity based on CNV events. The results point out common/specific CNV patterns and potential subtypes of cancer entities, which will help in the improvement of patient stratification and current cancer classification.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"286 ","pages":"Page S24"},"PeriodicalIF":1.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}