Cancer Genetics最新文献_第7页

Molecular mechanisms underlying the oncogenic and tumor-suppressive roles of ZHX2 in cancers 肿瘤中ZHX2的致癌和肿瘤抑制作用的分子机制

IF 2.1 4区医学

Cancer Genetics Pub Date : 2025-11-01 Epub Date: 2025-09-20 DOI: 10.1016/j.cancergen.2025.09.010

Yifan Wei , Haiyang Guo , Jingjie Zhou , Da Shi, Liqiang Hao

引用次数: 0

Comprehensive molecular profiling in MOTION study 运动研究中的综合分子分析

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-06-10 DOI: 10.1016/j.cancergen.2025.06.001

Olesya A. Kuznetsova , Maxim V. Ivanov , Alexandra A. Lebedeva , Alexey A. Tryakin , Egor M Veselovsky , Maria S. Cheporova , Fedor V. Moiseenko , Margarita S. Gileva , Alena I. Cherentsova , Anna N. Tiatiushkina , Mikhail Y. Fedyanin

{"title":"Comprehensive molecular profiling in MOTION study","authors":"Olesya A. Kuznetsova , Maxim V. Ivanov , Alexandra A. Lebedeva , Alexey A. Tryakin , Egor M Veselovsky , Maria S. Cheporova , Fedor V. Moiseenko , Margarita S. Gileva , Alena I. Cherentsova , Anna N. Tiatiushkina , Mikhail Y. Fedyanin","doi":"10.1016/j.cancergen.2025.06.001","DOIUrl":"10.1016/j.cancergen.2025.06.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Comprehensive molecular profiling (CMP) and molecularly matched therapy (MMT) have uncertain roles in advanced solid tumors. This study evaluates CMP's real-world application in Russia.</div></div><div><h3>Methods</h3><div>A retrospective, multicenter study analyzed CMP data from 448 patients with advanced non-hematologic malignancies (2018–2024). Genomic alterations (GA) were classified by ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).</div></div><div><h3>Results</h3><div>ESCAT tiers included I (15.4 %), II (4.9 %), III (31.5 %), IV (19.6 %), and V/X (28.6 %). Therapy data were available for 374 patients. MMT was recommended for 56.9 % but implemented in only 23.2 % (MMT group, <em>n</em> = 87). MMT group showed better objective response rate (61.3 % vs. 37.1 %, <em>p</em> = 0.001), disease control rate (24.0 % vs. 9.2 %, <em>p</em> = 0.003), and progression-free survival ratio (PFS 2/1) ≥ 1.3 (45.0 % vs. 16.2 %, <em>p</em> < 0.01) compared to non-MMT group (<em>n</em> = 287). Median overall survival (OS) was borderline improved (12 vs. 8 months, HR 0.74, <em>p</em> = 0.06). Reasons for non-MMT management were low GA targetability (40 %), drug unavailability (30 %), clinical decline (23 %), and clinician preference (7 %). Patients with ≤3 prior therapies, ECOG performance status 0–1, and molecular tumor board discussion saw significant OS gains with MMT even for ESCAT III-V GA (5 vs. 18 months, HR 0.25, <em>p</em> < 0.01).</div></div><div><h3>Conclusion</h3><div>MMT following CMP offers clinical benefit for selected patients, even with ESCAT III-V GA, underscoring its potential in personalized oncology.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 45-52"},"PeriodicalIF":1.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144298167","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}

引用次数: 0

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar 评估ClinVar中SMARCB1变异分类的一致性和基因型-表型关系的断言

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-06-16 DOI: 10.1016/j.cancergen.2025.06.005

Samarth Satish , Matan Bone , Deborah Ritter , Sharon E. Plon

{"title":"Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar","authors":"Samarth Satish , Matan Bone , Deborah Ritter , Sharon E. Plon","doi":"10.1016/j.cancergen.2025.06.005","DOIUrl":"10.1016/j.cancergen.2025.06.005","url":null,"abstract":"<div><div>Pathogenic <em>SMARCB1</em> variants are associated with multiple Mendelian syndromes: Schwannomatosis (SM), Rhabdoid Tumour Predisposition Syndrome (RTPS1), and/or Coffin-Siris Syndrome (CSS). Although some data suggests genotype/phenotype relationships based on mutation type and location, this is not used consistently potentially due to inconsistent or absent phenotypic data. We used ClinVar, the largest public platform of variant classifications, to evaluate variant-specific data from clinical laboratories and cited publications to assess reporting consistency and genotype-phenotype relationships. When available, we extracted the mutation type, HGVS nomenclature, submitters, publications, and disease conditions. We compared the disease assertions made by laboratory submissions with those made in cited publications. Across 59 <em>SMARCB1</em> pathogenic variants, we identified 91 laboratory submissions (38 single and 20 multiple laboratories) and 40 cited articles. Of 91 submissions, 40 did not provide any disease assertion. Nonsense RTPS1 variants (<em>n</em> = 23) were mostly located in exon 2, with some in exons 1, 4 and 5, and other variant types were limited to frameshifts and large deletions/duplications. SM variants (<em>n</em> = 10) were found throughout <em>SMARCB1</em> with diverse variant types. CSS variants (<em>n</em> = 6) were single amino-acid deletions, missense and frameshift variants limited to exons 8 and 9. Although ClinVar is a rich source of variant data and extensively used during variant classification, the frequent absence of disease assertions and inconsistent reporting impedes implementation of clear genotype-phenotype relationships for <em>SMARCB1</em>. Given the significant clinical impact of these diagnoses a more standardized way of reporting pathogenic variants for diseases associated with multiple Mendelian disorders is needed.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 84-87"},"PeriodicalIF":1.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549345","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}

引用次数: 0

Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a pediatric patient 错配修复癌综合征表现为同步高级别胶质瘤和弥漫性大B细胞淋巴瘤的儿科患者

IF 2.1 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-07-21 DOI: 10.1016/j.cancergen.2025.07.012

Margaret Massett , Nicole Kendel , Abdulrazak Alali , Erin Wright

{"title":"Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a pediatric patient","authors":"Margaret Massett , Nicole Kendel , Abdulrazak Alali , Erin Wright","doi":"10.1016/j.cancergen.2025.07.012","DOIUrl":"10.1016/j.cancergen.2025.07.012","url":null,"abstract":"<div><h3>Background</h3><div>Development of multiple distinct, synchronous cancer types in a pediatric patient is very rare and should raise suspicion for an underlying genetic predisposition to cancer.</div></div><div><h3>Case presentation</h3><div>We present a previously healthy seven-year-old male who was diagnosed with diffuse large B cell lymphoma after a ruptured appendicitis. During the same hospitalization, he was diagnosed with a high-grade glioma. He underwent subsequent genetic testing, which showed compound heterozygosity for <em>PMS2</em>. He was ultimately diagnosed with Mismatch Repair Cancer Syndrome-4, a subtype of Constitutional Mismatch Repair Deficiency syndrome. His newly discovered cancer predisposition syndrome led to multiple additional family members receiving the same diagnosis, which was especially important in a sibling with leukemia who received hematopoietic stem cell transplantation from an unaffected sibling donor.</div></div><div><h3>Conclusion</h3><div>While rare, cancer predisposition syndromes should be suspected in pediatric patients presenting with two or more synchronous, distinct cancer types.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 205-207"},"PeriodicalIF":2.1,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144724598","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}

引用次数: 0

GPX4 in triple-negative breast cancer: A key regulator of ferroptosis and therapeutic target GPX4在三阴性乳腺癌中的作用：铁下垂的关键调节因子和治疗靶点

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-06-28 DOI: 10.1016/j.cancergen.2025.06.009

Gomathy Baskar

引用次数: 0

TFAP2E acts as a tumor suppressor by regulating cell cycle progression in oral squamous cell carcinoma cells TFAP2E通过调节口腔鳞状细胞癌细胞周期进程发挥抑瘤作用

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-07-05 DOI: 10.1016/j.cancergen.2025.07.004

Ryo Sakai , Yoshinori Inagaki , Haruno Tsurumi , Akiko Ohashi , Tadateru Takayama , Shuichi Sato , Kyoko Fujiwara

{"title":"TFAP2E acts as a tumor suppressor by regulating cell cycle progression in oral squamous cell carcinoma cells","authors":"Ryo Sakai , Yoshinori Inagaki , Haruno Tsurumi , Akiko Ohashi , Tadateru Takayama , Shuichi Sato , Kyoko Fujiwara","doi":"10.1016/j.cancergen.2025.07.004","DOIUrl":"10.1016/j.cancergen.2025.07.004","url":null,"abstract":"<div><div>TFAP2E, a member of the activator protein-2 transcription factor family, is considered to act as a tumor suppressor. Lower TFAP2E expression is associated with poor prognosis in patients with different cancer types. <em>TFAP2E</em> gene is located on chromosome 1q34, where is commonly deleted region in the cancer genome. Our previous research indicated that TFAP2E suppresses cell growth by regulating cell cycle progression from the G2 to M phase. However, as the analyses were performed using asynchronized cells, other possibilities cannot be ruled out. The present study aimed to analyze the effects of <em>TFAP2E</em> silencing on synchronized cells. Human oral squamous cell carcinoma (OSCC)-derived Ca9–22 cells were stably transfected with TFAP2E-short hairpin RNA and synchronized to the late-G1 phase using double thymidine block. Cell cycle progression rate was analyzed by periodically examining cell cycle distribution patterns using fluorescence-activated cell sorting analysis. TFAP2E-knockdown cells showed a rapid exit from the M-phase compared with control cells; meanwhile, no difference was observed between the cells until the end of S-phase. Additionally, rapid M-phase exit was not observed in TFAP2E-knockdown cells following release from nocodazole-mediated synchronization to the G2/M-phase. These observations indicated that TFAP2E-knockdown results in rapid cell cycle progression from the G2 to M phase. Overall, current findings suggest that TFAP2E acts as a tumor suppressor by regulating cell cycle progression at least in OSCC cells.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 111-116"},"PeriodicalIF":1.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144596505","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}

引用次数: 0

Upregulation of Uracil DNA Glycosylase (UNG) in Prostate Cancer 尿嘧啶DNA糖基化酶（UNG）在前列腺癌中的上调

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-07-07 DOI: 10.1016/j.cancergen.2025.07.005

Vahid Rouhi , Sanaz Habibi , Dr. Hikmet Koseoglu , Dr. Emre Ari , Mehmet Guven

{"title":"Upregulation of Uracil DNA Glycosylase (UNG) in Prostate Cancer","authors":"Vahid Rouhi , Sanaz Habibi , Dr. Hikmet Koseoglu , Dr. Emre Ari , Mehmet Guven","doi":"10.1016/j.cancergen.2025.07.005","DOIUrl":"10.1016/j.cancergen.2025.07.005","url":null,"abstract":"<div><div>Prostate cancer is the second most common malignancy and a major cause of cancerrelated deaths in men. Dysregulation of DNA repair mechanisms, particularly those involved in base excision repair (BER), contributes significantly to carcinogenesis. Alterations in this pathway have been linked to aggressive tumor behavior, early recurrence, and poor survival, positioning DNA repair as a promising therapeutic target. This study focused on the expression of two BER genes, uracil DNA glycosylase (UNG) and 8-oxoguanine DNA glycosylase (OGG1), in tumor and adjacent normal prostate tissues. Fifty prostate cancer patients were enrolled. Tumor and adjacent normal tissues were obtained using tru-cut biopsy. Gene expression levels of UNG and OGG1 were assessed by quantitative real-time PCR. UNG expression was significantly elevated in tumor tissues compared to normal tissues, showing a 3.39-fold increase (<em>p</em> = 0.02). OGG1 expression also increased by 2.60-fold, but this was not statistically significant (<em>p</em> > 0.05). A positive correlation was observed between UNG expression and PSA levels in tumor tissues (<em>r</em> = 0.341, <em>p</em> = 0.01). No statistically significant difference in gene expression was found between tumor and normal tissues with respect to clinical parameters such as diabetes, hypertension, PIRADS score, Gleason score, smoking status, or presence of nodules. UNG is significantly upregulated in prostate cancer and may help maintain genomic stability and tumor cell survival. Targeting UNG alongside DNA-damaging therapies could disrupt cancer progression. Further studies on BER genes may support personalized treatment approaches in prostate cancer.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 130-132"},"PeriodicalIF":1.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611724","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}

引用次数: 0

Resolving HER2 status in breast carcinoma patients with complete deletion of CEP17 in fluorescence in-situ hybridization assays 荧光原位杂交法测定CEP17完全缺失乳腺癌患者的HER2状态

IF 2.1 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-07-26 DOI: 10.1016/j.cancergen.2025.07.015

Diane M. Wilcock , Jian Zhao , H. Evin Gulbahce

{"title":"Resolving HER2 status in breast carcinoma patients with complete deletion of CEP17 in fluorescence in-situ hybridization assays","authors":"Diane M. Wilcock , Jian Zhao , H. Evin Gulbahce","doi":"10.1016/j.cancergen.2025.07.015","DOIUrl":"10.1016/j.cancergen.2025.07.015","url":null,"abstract":"<div><h3>Objectives</h3><div>To assess the clinicopathologic features of breast cancers with complete CEP17 deletion and determine if alternative testing can resolve their HER2 status.</div></div><div><h3>Methods</h3><div>Cases with complete CEP17 deletion were identified, relevant clinicopathologic information was obtained, and fluorescence in-situ hybridization (FISH) was rerun with an alternative chromosome 17 control gene (RAI1, 17p11.2). One case was also evaluated by cytogenomic SNP microarray (CMA).</div></div><div><h3>Results</h3><div>Nine breast carcinoma cases were identified and displayed average <em>HER2</em> copy numbers ranging from 1.1 to 4.7 (Average: 3.1). HER2 immunohistochemistry (IHC) result was available on 8/9 cases with 2/8 (25 %) displaying no staining, 2/8 (25 %%) displaying 1+ staining and 4/8 (50 %) with 2+ staining. ER and PR IHC were available on 8/9 cases 7/8 (87.5 %) were ER and/or PR positive. RAI1 was present in all cases and, if used in place of CEP17, the ASCO/CAP group classification would have been 2/9 (22.2 %) Group 1, 2/9 (22.2 %) Group 4, and 5/9 (55.6 %) Group 5. CMA confirmed complete CEP17 deletion in one case.</div></div><div><h3>Conclusions</h3><div>Alternative chromosome 17 markers and/or CMA may be needed to resolve HER2 status in patients with complete deletion of CEP17.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 196-199"},"PeriodicalIF":2.1,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721951","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}

引用次数: 0

Corrigendum to “Ultra-sensitive detection of melanoma NRAS mutant ctDNA based on programmable endonucleases” [Cancer Genetics 294-295 (2025) 47–56] “基于可编程内切酶的黑色素瘤NRAS突变ctDNA的超灵敏检测”的勘误表[癌症遗传学294-295 (2025)47-56]

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-07-19 DOI: 10.1016/j.cancergen.2025.07.008

Zuoying Zhang , Qing Ji , Zhanfang Zhang , Bao Lyu , Pei Li , Liyi Zhang , Kaifei Chen , Meiyu Fang , Jinzhao Song

引用次数: 0

TRIM29 promotes glioblastoma progression via ubiquitinating NEFL and activating the PI3K/AKT signaling pathway TRIM29通过泛素化NEFL和激活PI3K/AKT信号通路促进胶质母细胞瘤的进展

IF 1.4 4区医学

Cancer Genetics Pub Date : 2025-09-01 Epub Date: 2025-06-26 DOI: 10.1016/j.cancergen.2025.06.008

Yuankun Liu , Qisheng He , Lingjie Zhu , Mengmeng Zhong , Hao Zhuang , Ning Zhao , Yijin Cai , Chao Cheng , Junfei Shao

{"title":"TRIM29 promotes glioblastoma progression via ubiquitinating NEFL and activating the PI3K/AKT signaling pathway","authors":"Yuankun Liu , Qisheng He , Lingjie Zhu , Mengmeng Zhong , Hao Zhuang , Ning Zhao , Yijin Cai , Chao Cheng , Junfei Shao","doi":"10.1016/j.cancergen.2025.06.008","DOIUrl":"10.1016/j.cancergen.2025.06.008","url":null,"abstract":"<div><div>Tripartite motif-containing protein 29 (TRIM29) is a regulator of tumor progression across multiple cancer types. However, its functional significance in glioblastoma (GBM) remains poorly defined. In this study, we investigated the biological roles of TRIM29 in GBM and elucidated its underlying molecular mechanisms. Clinically, TRIM29 expression was significantly upregulated in glioma tissues compared to adjacent normal brain tissues, and elevated TRIM29 levels correlated with unfavorable prognosis in GBM patients. Functionally, both in vitro (GBM cell lines) and in vivo (a mouse xenograft model) experiments demonstrated that TRIM29 overexpression robustly enhanced GBM cell proliferation, migration, and invasive capacity. Mechanistically, TRIM29 directly interacted with neurofilament light polypeptide (NEFL), triggering K48-linked polyubiquitination and subsequent proteasomal degradation of NEFL[1]. This ubiquitination-dependent NEFL downregulation led to constitutive activation of the PI3K/AKT signaling pathway. Our findings uncover a novel TRIM29-NEFL-PI3K/AKT axis that drives glioblastoma malignancy, highlighting the therapeutic potential of targeting this pathway for GBM treatment.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 88-99"},"PeriodicalIF":1.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564003","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}

引用次数: 0