Cancer Genetics最新文献

{"title":"Resolving HER2 status in breast carcinoma patients with complete deletion of CEP17 in fluorescence in-situ hybridization assays","authors":"Diane M. Wilcock ,&nbsp;Jian Zhao ,&nbsp;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":"2025-07-26","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}

{"title":"Pan-cancer methylation analysis of circulating cell-free DNA","authors":"Wenjiao Dong ,&nbsp;Cia-Hin Lau ,&nbsp;Jiaqi Li ,&nbsp;Zhihao Huang ,&nbsp;Jiahui Li ,&nbsp;Weidong Wu ,&nbsp;Xiaoqing Chen ,&nbsp;Yumei Huang ,&nbsp;Xiaojun Huang ,&nbsp;Meijing Xu ,&nbsp;Haibao Zhu ,&nbsp;Yuanlin Ding","doi":"10.1016/j.cancergen.2025.07.014","DOIUrl":"10.1016/j.cancergen.2025.07.014","url":null,"abstract":"<div><h3>Background</h3><div>Universal cancer screening based on methylation analysis of circulating cell-free DNA (cfDNA) enables multi-organ cancer detection, thereby reducing all-cause mortality and preventing cancer misdiagnosed by guideline-based cancer-specific screening. This study aims to establish a gene methylation panel for blood-based multi-cancer early detection.</div></div><div><h3>Materials and methods</h3><div>Bioinformatics analysis and in-house DNA sequencing of various human cancer cell lines and blood from healthy persons were carried out to identify candidate pan-cancer methylation sites. Methylation-sensitive restriction enzymes-quantitative PCR (MSRE-qPCR) was then used for DNA methylation analysis. Blood cfDNA from 103 patients with diverse cancer types and 40 healthy subjects was extracted for methylation analysis.</div></div><div><h3>Results</h3><div>By bioinformatics analysis and in-house DNA sequencing, we identified two candidates pan-cancer methylation sites, <em>HIST1H4F</em> and <em>CDO1</em>. A long stretch of methylation was found on the promoters of <em>HIST1H4F</em> and <em>CDO1</em> across various cancer cell lines, while these genomic regions are unmethylated in healthy persons. When tested with clinical samples, the detection sensitivity and specificity of our gene methylation panel in detecting pan-cancer were 47.57 % and 90.00 %, respectively. When analyzed by cancer subtypes, the detection sensitivity was the highest in lung cancer (76.92 %), followed by colorectal cancer (63.64 %) and gastric cancer (50.00 %).</div></div><div><h3>Conclusions</h3><div>Our newly established gene methylation panel provides an alternative assay for multi-cancer screening tests. As no bisulfite conversion and invasive procedures are required, it can accelerate cancer diagnosis and streamline the operation for pan-cancer screening.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 182-195"},"PeriodicalIF":2.1,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721987","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":"Isolated multinodular goiter and follicular adenoma associated with a novel germline DICER1 variant: A benign presentation","authors":"Joshua Chang ,&nbsp;Rachel Rabenn ,&nbsp;Aditi Parikh ,&nbsp;Chen-Han Wilfred Wu","doi":"10.1016/j.cancergen.2025.07.013","DOIUrl":"10.1016/j.cancergen.2025.07.013","url":null,"abstract":"<div><div><em>DICER1</em> syndrome is a tumor-predisposition disorder caused by a germline pathogenic variant in <em>DICER1</em>. Pathogenic variants of <em>DICER1</em> are the monogenic cause of various tumors including pleuropulmonary blastoma (PPB), ovarian sex cord-stromal tumors, and multinodular goiters. We present a family with a novel <em>DICER1</em> pathogenic variant c.5528–2del who presents with development of isolated thyroid goiters/follicular adenoma. A 44 year old female presents with a past medical history of total thyroidectomy along with her 14-year-old son with a past history of multinodular thyroid goiter confirmed as multifocal follicular adenoma with papillary architecture and her 12-year-old daughter with a past history of multinodular thyroid goiter confirmed as diffuse nodular thyroid hyperplasia. No additional <em>DICER1</em> syndrome presentations were observed. A genetics panel revealed that the mother, the 14-year-old son, and the 12-year-old daughter share a heterozygous <em>DICER1</em> c.5528–2del variant, which has not been previously reported. In addition to our direct clinical observations from this family, genetic analysis via in silico prediction models, segregation analysis, and ACMG classification support this variant to be pathogenic. Given the absence of other <em>DICER1</em> syndrome manifestations through human genetics evidence, this variant may be specifically associated with isolated multinodular goiters/follicular adenoma. Our findings contribute to the expanding genotype-phenotype correlation in <em>DICER1</em> syndrome, providing new insights into its variable clinical presentation. Since not all variants are identical, reporting of these observations will advance precision medicine and benefit future patients through more accurate diagnosis, prognosis and personalized management strategies.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 200-204"},"PeriodicalIF":2.1,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144724597","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":"Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a pediatric patient","authors":"Margaret Massett ,&nbsp;Nicole Kendel ,&nbsp;Abdulrazak Alali ,&nbsp;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":"2025-07-21","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}

{"title":"Corrigendum to “Ultra-sensitive detection of melanoma NRAS mutant ctDNA based on programmable endonucleases” [Cancer Genetics 294-295 (2025) 47–56]","authors":"Zuoying Zhang ,&nbsp;Qing Ji ,&nbsp;Zhanfang Zhang ,&nbsp;Bao Lyu ,&nbsp;Pei Li ,&nbsp;Liyi Zhang ,&nbsp;Kaifei Chen ,&nbsp;Meiyu Fang ,&nbsp;Jinzhao Song","doi":"10.1016/j.cancergen.2025.07.008","DOIUrl":"10.1016/j.cancergen.2025.07.008","url":null,"abstract":"","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Page 144"},"PeriodicalIF":1.4,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144662827","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":"The KRAS p.Ala146Thr mutation promotes the proliferation of colorectal cancer cells via CDK1-mediated ERK signaling","authors":"Wei Li ,&nbsp;Zishan Xu ,&nbsp;Xiangyang Dong ,&nbsp;Xiaoyu Yang ,&nbsp;Gaoxiang Wang ,&nbsp;Guoyang He","doi":"10.1016/j.cancergen.2025.07.011","DOIUrl":"10.1016/j.cancergen.2025.07.011","url":null,"abstract":"<div><div><em>KRAS</em> is the most frequently mutant human oncogene, with mutations present in more than 30% of colorectal cancer (CRC) cases. A rare somatic mutation in <em>KRAS</em>, NM_004985.5 : c.436G&gt;A (p.Ala146Thr), was identified in carcinoma tissues from two CRC patients using Sanger sequencing. An alternative transcript of <em>CDC37</em> was identified that retained intron 3. No splicing variant was detected within the coding exons and exon-intron boundaries of <em>CDC37</em>. The transcript encoded both truncated and full-length CDC37 proteins. Furthermore, KRAS, CDC37 and HSP90 interacted with each other. The expression levels of HSP90 and CDC37 in carcinoma tissues with the <em>KRAS</em> p.Ala146Thr mutation were higher than those in para-carcinoma tissues. Notably, the p.Ala146Thr mutation significantly upregulated the expression of CDK1, which in turn promoted CRC cell proliferation through activation of ERK signaling. These findings uncover a novel molecular mechanism underlying CRC pathogenesis associated with the <em>KRAS</em> p.Ala146Thr mutation and provide potential insights for developing targeted therapies for this subset of CRC.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 154-162"},"PeriodicalIF":1.4,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144685460","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":"Unraveling prognostic biomarkers in oral squamous cell carcinoma: An approach based on explainable artificial intelligence","authors":"Atika Dogra ,&nbsp;Yasha Hasija","doi":"10.1016/j.cancergen.2025.07.010","DOIUrl":"10.1016/j.cancergen.2025.07.010","url":null,"abstract":"<div><div>Oral cancer is among the top malignancies and the leading cause of death worldwide. Poor outcomes are attributed to local recurrence and distant metastasis of disease. There is an urgent need to identify the potential biomarkers that may help in prognostication and management of oral cancer. This study aimed to find potential prognostic biomarkers for oral squamous cell carcinoma (OSCC) using eXplainable artificial intelligence (XAI). After the curation of microarray data from GSE31056 (38 relapsed and 58 non-relapsed OSCC samples/ normal oral tissue samples), the application of XAI on Extreme Gradient Boosting algorithm machine learning (ML) models trained on binary classification datasets was employed. After successfully incorporating SHapley Additive exPlanations values into the ML models, 20 top significant genes associated with the relapse of OSCC were identified. The key genes included FAM49B, TTC39A, IFI16, ANGPTL4, HSPH1, GRIA2, SERF2 and others which contribute crucially to cell growth, cell invasion, apoptosis, disease progression, overall survival and disease-free survival. Further, a network of genes and their targeting microRNAs (miRNAs) revealed that miRNAs hsa-let-7b-5p, hsa-miR-27a-3p and hsa-miR-124–3p, had the highest interactions with genes. The predicted genes and miRNAs might be worthy prognostic markers and open the possibilities to understand the underlying pathways and recognize therapeutic targets for aggressive OSCC.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 163-171"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703087","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":"The mechanism of lncRNA SSTR5-AS1 promoting ferroptosis resistance and immune escape in ovarian cancer cells by recruiting STAT3 to regulate SLC7A11 expression","authors":"Qiong Wei ,&nbsp;Yi Yang ,&nbsp;Huimin Wang,&nbsp;Chun Li,&nbsp;Yuping Li","doi":"10.1016/j.cancergen.2025.07.009","DOIUrl":"10.1016/j.cancergen.2025.07.009","url":null,"abstract":"<div><h3>Objective</h3><div>Ovarian cancer (OC) is the foremost cause of gynecological cancer-related mortality. Respecting the role of long noncoding RNAs (lncRNAs) in malignancies, we explored the mechanism of SSTR5-AS1 regulating OC cell ferroptosis resistance and immune escape via the signal transducer and activator of transcription 3 (STAT3)/solute carrier family 7a member 11 (SLC7A11) axis.</div></div><div><h3>Methods</h3><div>OC cells were treated with si-SSTR5-AS1, oe-SSTR5-AS1 and oe-SLC7A11 plasmids. SSTR5-AS1, STAT3 and SLC7A11 mRNA levels, and cell malignant behaviors were assessed by RT-qPCR, CCK-8 and Transwell assays. Fe²⁺, glutathione (GSH) and malondialdehyde (MDA) levels in Erastin-induced OC cells, and viability and apoptosis in OC cell-co-cultured CD8⁺<em>T</em> cells were determined using kits, and CCK-8 and flow cytometry. SSTR5-AS1 distribution was detected by subcellular fractionation assay. STAT3 and SLC7A11 protein levels were measured by Western blot. The protein interaction and binding relationship between SSTR5-AS1 and STAT3 were predicted by database and confirmed using RIP and verified using dual-luciferase assays.</div></div><div><h3>Results</h3><div>SSTR5-AS1 was up-regulated in OC cells. SSTR5-AS1 overexpression facilitated OC cell malignant behaviors, down-regulated Fe²⁺ and MDA levels and up-regulated the GSH level in Erastin-treated OC cells, and diminished viability and enhanced apoptosis in OC cell-co-cultured CD8⁺<em>T</em> cells, suggesting that SSTR5-AS1 overexpression promoted OC cell ferroptosis resistance and immune escape, which were inhibited by its downregulation. SSTR5-AS1 facilitated SLC7A11 transcription and expression by recruiting STAT3. SLC7A11 overexpression partially reversed the effects of SSTR5-AS1 knockdown on OC cells.</div></div><div><h3>Conclusion</h3><div>SSTR5-AS1 promoted SLC7A11 transcription and expression by recruiting STAT3, thereby promoting ferroptosis resistance and immune escape of OC cells.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 172-181"},"PeriodicalIF":1.4,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144711966","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":"The effect of HOTAIR gene variants on the development of bladder cancer and its clinicopathological characteristics in a Caucasian population","authors":"Yakup Akkoç ,&nbsp;Hasan Sulhan ,&nbsp;Ersin Akgöllü ,&nbsp;Ali Çift","doi":"10.1016/j.cancergen.2025.07.007","DOIUrl":"10.1016/j.cancergen.2025.07.007","url":null,"abstract":"<div><h3>Background</h3><div>The age-adjusted rate of Bladder cancer (BC) in Türkiye is quite high, and genetic factors are effective in BC. Long non-coding RNAs (lncRNAs) synthesized from the <em>HOTAIR</em> gene have been shown to promote tumor progression in many cancers. rs874945 and rs4759314 polymorphisms in the <em>HOTAIR</em> gene cause changes in the expression levels of lncRNAs synthesized from this gene. The aim of this study was to explore for the first time the association of these variants with BC in a Caucasian population.</div></div><div><h3>Methods</h3><div>The present study explored the <em>HOTAIR</em> gene polymorphisms in 98 BC patients and in 150 healthy individuals using real-time polymerase chain reaction (RT-PCR).</div></div><div><h3>Results</h3><div>Carrying rs874945 G allele and GA genotype increased the BC risk in the statistic models. However, even if rs4759314 variant increased of BC risk was not significant. Similarly, although both polymorphisms increased clinicopathological features associated with poor prognosis, they were not statistically significant. Moreover, being older than 60 years and smoking are independent risk factors for BC.</div></div><div><h3>Discussion</h3><div>The current study is the first to show that patients carrying the G allele of the rs874945 polymorphism have a higher risk of BC in the Caucasian population. This work suggests that rs4759314 polymorphism should be studied in the Caucasian population with a larger sample size of BC patients.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 145-149"},"PeriodicalIF":1.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144662820","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":"Prevalence and clinical implications of PIK3CA aberrations across cancer types: A real-world next-generation sequencing approach","authors":"Junkyu Kim ,&nbsp;Hye-Lim Jang ,&nbsp;Jung Young Hong ,&nbsp;Seung Tae Kim ,&nbsp;Se Hoon Park ,&nbsp;Joon Oh Park ,&nbsp;Kyoung-Mee Kim ,&nbsp;Deok geun Kim ,&nbsp;Jeeyun Lee ,&nbsp;Sung Hee Lim","doi":"10.1016/j.cancergen.2025.07.006","DOIUrl":"10.1016/j.cancergen.2025.07.006","url":null,"abstract":"<div><h3>Background</h3><div>Activation of the phosphatidylinositol 3-kinase (PI3K) pathway is a common oncogenic mechanism in various solid tumors and is often driven by aberrations in the <em>PIK3CA</em> gene. Recent advancements have shown effective treatment for patients with <em>PIK3CA</em>-mutated breast cancer; however, there is an unmet need for other malignancies. The aim of this study was to gain a better understanding of PIK3CA mutations and amplifications across cancer types.</div></div><div><h3>Methods</h3><div>From October 2019 to June 2023, we performed next-generation sequencing using Trusight Oncology 500 on 3886 patients with 36 different cancer types at the Samsung Medical Center. The incidence of <em>PIK3CA</em> mutations and amplifications according to cancer type and their correlation with the tumor mutation burden (TMB), microsatellite instability (MSI), and homologous recombination deficiency (HRD) status were reviewed. Mutation sites were also identified.</div></div><div><h3>Results</h3><div>Among the 3886 patients, <em>PIK3CA</em> mutations were present in 9.2 % (358/3886) of the cohort, with colorectal cancer, 52.8 % (189/358), having the highest incidence. Patients harboring <em>PIK3CA</em> mutations demonstrated significantly higher TMB and MSI-high rates than those without (31.8 % vs. 12.5 % for TMB and 7.8 % vs. 1.6 % for MSI-high, respectively, <em>p</em> = 0.001). In contrast, <em>PIK3CA</em> amplifications were observed in 1.3 % (51/3886) of patients, primarily in gastric, bladder, and colorectal cancers, and associated with lower TMB, MSI-high, and HRD rates. PIK3CA fusions were identified in three patients. The most common mutation sites were E545K, E542K, and H1047R.</div></div><div><h3>Conclusion</h3><div>Of 3886 patients with metastatic solid tumors, 358(9.2 %) had <em>PIK3CA</em> mutations and 51(1.3 %) had PIK3CA amplifications. Next-generation sequencing analysis provided a deeper understanding of PIK3CA aberrations.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"296 ","pages":"Pages 133-143"},"PeriodicalIF":1.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144656551","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}