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Synchronous Papillary Thyroid Cancer and Colorectal Cancer in a Young Patient with a CHEK2 Mutation.
Sydney Brooke Hoskins, Leslie Torgerson
INTRODUCTION: Mutations of CHEK2 are usually inherited and have been implicated in breast cancers, colorectal cancers, thyroid cancers, kidney cancers, and prostate cancers. The CHEK2 gene codes for checkpoint kinase 2 protein which is an effector in the ATM-CHEK2-p53 pathway and responds to DNA double-strand breaks. CASE PRESENTATION: We describe a unique case of a 29-year-old Canadian female who presented with synchronous papillary thyroid carcinoma and rectal adenocarcinoma who was subsequently found to have a sporadic CHEK2 (checkpoint kinase 2) mutation...
2024: Case Reports in Oncology
#22
JOURNAL ARTICLE
Fernanda J Martin, Isabel M Saffie, Mabel A Hurtado, Diana Avila-Jaque, Rodrigo A Lagos, Carolina A Selman, Jonathan Z Huserman, Valentina A Castillo, Badir J Chahuán
PURPOSE: The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. METHODS: Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez's genetic counselling unit between 2016 and 2021...
2024: Ecancermedicalscience
#23
JOURNAL ARTICLE
Yoo Jane Han, Siyao Liu, Ashley Hardeman, Padma Sheila Rajagopal, Jeffrey Mueller, Galina Khramtsova, Ayodele Sanni, Mustapha A Ajani, Wendy Clayton, Ian W Hurley, Toshio F Yoshimatsu, Yonglan Zheng, Joel Parker, Charles M Perou, Olufunmilayo I Olopade
PURPOSE: Black women experience the highest breast cancer mortality rate compared to women of other racial/ethnic groups. To gain a deeper understanding of breast cancer heterogeneity across diverse populations, we examined a VEGF-hypoxia gene expression signature in breast tumors from women of diverse ancestry. EXPERIMENTAL DESIGN: We developed a NanoString nCounter gene expression panel and applied it to breast tumors from Nigeria (n=182) and the University of Chicago (n=161)...
April 2, 2024: Clinical Cancer Research
#24
JOURNAL ARTICLE
Yun Ma, Weipei Zhu
Cervical cancer (CC) is a common malignancy affecting women worldwide. Our objective was to develop a consensus-based gene panel using multi-omics data that could effectively predict recurrence in early-stage cervical cancer patients. We utilized the "Multi-Omics Consensus Integration Analysis (MOVICS)" package for consensus clustering design to integrate multiple omics datasets and improve the molecular classification landscape of early-stage CC. We identified the "resting and naive" tumor microenvironment (TME) as cancer subtype (CS) 2...
April 2, 2024: Environmental Toxicology
#25
Andrea Flesken-Nikitin, Matalin G Pirtz, Christopher S Ashe, Lora H Ellenson, Benjamin D Cosgrove, Alexander Yu Nikitin
Serous endometrial carcinoma (SEC) constitutes about 10% of endometrial carcinomas and is one of the most aggressive and lethal types of uterine cancer. Due to the rapid progression of SEC, early detection of this disease is of utmost importance. However, molecular and cellular dynamics during the pre-dysplastic stage of this disease remain largely unknown. Here, we provide a comprehensive census of cell types and their states for normal, pre-dysplastic, and dysplastic endometrium in a mouse model of SEC. This model is associated with inactivation of tumor suppressor genes Trp53 and Rb1 , whose pathways are altered frequently in SEC...
March 19, 2024: bioRxiv
#26
JOURNAL ARTICLE
Identification of a gene expression signature associated with brain metastasis in colorectal cancer.
Marlies Michl, Francesco Taverna, Christine Woischke, Pan Li, Frederick Klauschen, Thomas Kirchner, Volker Heinemann, Michael von Bergwelt-Baildon, Arndt Stahler, Tobias Marcus Herold, Vindi Jurinovic, Jutta Engel, Jörg Kumbrink, Jens Neumann
PURPOSE: Brain metastasis (BM) in colorectal cancer (CRC) is a rare event with poor prognosis. Apart from (K)RAS status and lung and bone metastasis no biomarkers exist to identify patients at risk. This study aimed to identify a gene expression signature associated with colorectal BM. METHODS: Three patient groups were formed: 1. CRC with brain metastasis (BRA), 2. exclusive liver metastasis (HEP) and, 3. non-metastatic disease (M0). RNA was extracted from primary tumors and mRNA expression was measured using a NanoString Panel (770 genes)...
March 17, 2024: Clinical & Translational Oncology
#27
JOURNAL ARTICLE
Armelle Dufresne, Valéry Attignon, Anthony Ferrari, Laurie Tonon, Sandrine Boyault, Séverine Tabone-Eglinger, Philippe Cassier, Olivier Trédan, Nadège Corradini, Armelle Vinceneux, Aurélie Swalduz, Alain Viari, Sylvie Chabaud, David Pérol, Jean Yves Blay, Pierre Saintigny
INTRODUCTION: The objective was to determine the added value of comprehensive molecular profile by whole-exome and RNA sequencing (WES/RNA-Seq) in advanced and refractory cancer patients who had no molecular-based treatment recommendation (MBTR) based on a more limited targeted gene panel (TGP) plus array-based comparative genomic hybridization (aCGH). MATERIALS AND METHODS: In this retrospective analysis, we selected 50 patients previously included in the PROFILER trial (NCT01774409) for which no MBT could be recommended based on a targeted 90-gene panel and aCGH...
April 2024: Cancer Medicine
#28
JOURNAL ARTICLE
Sara Fayazzadeh, Mahsa Ghorbaninejad, Amirhassan Rabbani, Javad Zahiri, Anna Meyfour
Hepatocellular carcinoma (HCC) ranks among the most prevalent cancers and accounts for a significant proportion of cancer-associated deaths worldwide. This disease, marked by multifaceted etiology, often poses diagnostic challenges. Finding a reliable and non-invasive diagnostic method seems to be necessary. In this study, we analyzed the gene expression profiles of 20 HCC patients, 12 individuals with chronic hepatitis, and 15 healthy controls. Enrichment analysis revealed that platelet aggregation, secretory granule lumen, and G-protein-coupled purinergic nucleotide receptor activity were common biological processes, cellular components, and molecular function in HCC and chronic hepatitis B (CHB) compared to healthy controls, respectively...
March 29, 2024: Scientific Reports
#29
JOURNAL ARTICLE
Xue Li, Liyi Zhang, Xuan Huang, Qi Peng, Shoutao Zhang, Jiangming Tang, Jing Wang, Dingqing Gui, Fanxin Zeng
BACKGROUND: Cervical cancer (CC) is a danger to women's health, especially in many developing countries. Metabolomics can make the connection between genotypes and phenotypes. It provides a wide spectrum profile of biological processes under pathological or physiological conditions. METHOD: In this study, we conducted plasma metabolomics of healthy volunteers and CC patients and integratively analyzed them with public CC tissue transcriptomics from Gene Expression Omnibus (GEO)...
March 29, 2024: Discover. Oncology
#30
JOURNAL ARTICLE
Li Pang, Chengzhong Cai, Praful Aggarwal, Dong Wang, Vikrant Vijay, Prathyusha Bagam, Jacob Blamer, Andrea Matter, Amy Turner, Lijun Ren, Katy Papineau, Vinodh Srinivasasainagendra, Hemant K Tiwari, Xi Yang, Laura Schnackenberg, William Mattes, Ulrich Broeckel
Many oncology drugs have been found to induce cardiotoxicity in a subset of patients, which significantly limits their clinical use and impedes the benefit of lifesaving anti-cancer treatments. Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) carry donor-specific genetic information and have been proposed for exploring the inter-individual difference in oncology drug-induced cardiotoxicity. Herein, we evaluated the inter- and intra- individual variability of iPSC-CM-related assays and presented a proof of concept to prospectively predict doxorubicin (DOX)-induced cardiotoxicity (DIC) using donor-specific iPSC-CMs...
March 28, 2024: Toxicological Sciences: An Official Journal of the Society of Toxicology
#31
JOURNAL ARTICLE
Andrea Daniela Hobeck, Sophia Wendt, Saskia Krohn, Gudrun Knuebel, Stephan Bartels, Elisa Schipper, Christian Junghanss, Hugo Murua Escobar
Next-generation sequencing is a vital tool for personalized diagnostics and therapies in cancer. Despite numerous advantages, the method depends on multiple parameters regarding the sample material, e.g., sample fixation. A panel's ability to ensure balanced pre-amplification of the regions of interest is challenging, especially in targeted sequencing approaches, but of significant importance to its applicability across hematological malignancies and solid tumors. This study comparatively evaluated the technical performance of the commercially available OncomineTM Myeloid Panel in fresh and Formalin-fixed paraffin-embedded (FFPE) material by using an Ion Torrent™ Personal Genome Machine™ System and Ion GeneStudio S5 System platform...
March 21, 2024: International Journal of Molecular Sciences
#32
JOURNAL ARTICLE
Martín Salamini-Montemurri, Ángel Vizoso-Vázquez, Aida Barreiro-Alonso, Lidia Lorenzo-Catoira, Esther Rodríguez-Belmonte, María-Esperanza Cerdán, Mónica Lamas-Maceiras
Human high-mobility group-B (HMGB) proteins regulate gene expression in prostate cancer (PCa), a leading cause of oncological death in men. Their role in aggressive PCa cancers, which do not respond to hormonal treatment, was analyzed. The effects of HMGB1 and HMGB2 silencing upon the expression of genes previously related to PCa were studied in the PCa cell line PC-3 (selected as a small cell neuroendocrine carcinoma, SCNC, PCa model not responding to hormonal treatment). A total of 72% of genes analyzed, using pre-designed primer panels, were affected...
March 7, 2024: International Journal of Molecular Sciences
#33
REVIEW
Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in predisposition to cancer, primarily to melanoma and chronic lymphocytic leukemia (CLL). We report the identification of POT1 p.(I78T), previously ranked with conflicting interpretations of pathogenicity, as a founder pathogenic variant among Ashkenazi Jews (AJs) and describe its unique clinical landscape...
March 13, 2024: Genes
#34
JOURNAL ARTICLE
Ajoy Oommen John, Ashish Singh, Pratibha Yadav, Anjana Joel, Divya Bala Thumaty, K Fibi Ninan, Josh Thomas Georgy, Anish Jacob Cherian, Shawn Thomas, Anitha Thomas, Vinotha Thomas, Abraham Peedicayil, Deny Varghese, R Parthiban, Lavanya Ravichandran, Jabasteen Johnson, Nihal Thomas, Bijesh Yadav, S Patricia, B Selvamani, Deepak Abraham, M J Paul, Raju Titus Chacko, Aaron Chapla
Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers. We also aimed to identify population specific BRCA1/2 mutation hotspots, to enable the development of more affordable testing strategies...
March 28, 2024: European Journal of Human Genetics: EJHG
#35
JOURNAL ARTICLE
Yan-Ping Yu, Silvia Liu, David Geller, Jian-Hua Luo
Hepatocellular carcinoma (HCC) is one of the most lethal malignancies for human. Early diagnosis of HCC is crucial in reducing the mortality of the disease. In this study, a panel of 9 fusion transcripts in the serum samples from 136 individuals using TaqMan qRT-PCR was analyzed. Seven fusion genes were frequently detected in the serum samples of HCC patients, including MAN2A1-FER (100%), SLC45A2-AMACR (62.3%), ZMPSTE24-ZMYM4 (62.3%), PTEN-NOLC1 (57.4%), CCNH-C5orf30 (55.7%), STAMBPL1-FAS (26.2%) and PCMTD1-SNTG1 (16...
March 25, 2024: American Journal of Pathology
#36
REVIEW
Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germline TP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type...
March 26, 2024: Hereditary Cancer in Clinical Practice
#37
JOURNAL ARTICLE
Binsheng Gong, Dan Li, Yifan Zhang, Rebecca Kusko, Samir Lababidi, Zehui Cao, Mingyang Chen, Ning Chen, Qiaochu Chen, Qingwang Chen, Jiacheng Dai, Qiang Gan, Yuechen Gao, Mingkun Guo, Gunjan Hariani, Yujie He, Wanwan Hou, He Jiang, Garima Kushwaha, Jian-Liang Li, Jianying Li, Yulan Li, Liang-Chun Liu, Ruimei Liu, Shiming Liu, Edwin Meriaux, Mengqing Mo, Mathew Moore, Tyler J Moss, Quanne Niu, Ananddeep Patel, Luyao Ren, Nedda F Saremi, Erfei Shang, Jun Shang, Ping Song, Siqi Sun, Brent J Urban, Danke Wang, Shangzi Wang, Zhining Wen, Xiangyi Xiong, Jingcheng Yang, Lihui Yin, Chao Zhang, Ruolan Zhang, Ambica Bhandari, Wanshi Cai, Agda Karina Eterovic, Dalila B Megherbi, Tieliu Shi, Chen Suo, Ying Yu, Yuanting Zheng, Natalia Novoradovskaya, Renee L Sears, Leming Shi, Wendell Jones, Weida Tong, Joshua Xu
Accurate indel calling plays an important role in precision medicine. A benchmarking indel set is essential for thoroughly evaluating the indel calling performance of bioinformatics pipelines. A reference sample with a set of known-positive variants was developed in the FDA-led Sequencing Quality Control Phase 2 (SEQC2) project, but the known indels in the known-positive set were limited. This project sought to provide an enriched set of known indels that would be more translationally relevant by focusing on additional cancer related regions...
March 25, 2024: Scientific Reports
#38
JOURNAL ARTICLE
Yan Gao, Dan Zi, Wentong Liang, Fang Qiu, Jie Zheng, Xuelian Xiao, Engli Jiang, Yuwei Xu
INTRODUCTION: Methylation assays have demonstrated potential as dependable and high-precision approaches for identifying or triaging individuals with cervical cancer (CA) or cervical intraepithelial neoplasia (CIN). Our investigation aimed to assess the efficacy of diagnosis and triage of the PAX1/SOX1 methylation panel in detecting CIN or CA. METHODS: A total of 461 patients with abnormal high-risk human papillomavirus (hrHPV) or cytology test results were recruited for this study...
March 25, 2024: Acta Cytologica
#39
JOURNAL ARTICLE
Farideh Saberi, Omar Youssef, Arto Kokkola, Mahsa Khodadoostan, Pauli Puolakkainen, Rasoul Salehi, Sakari Knuutila
BACKGROUND: Stools from colorectal cancer patients are noninvasive samples that could be used to compare the frequency of hotspot mutations between two different ethnic cohorts. MATERIALS AND METHODS: We collected stool samples from the Iranian cohort (52 patients and 49 controls) and the Finnish cohort (40 patients and 14 controls). Following stool DNA extraction, we used the AmpliSeq Colon and Lung Cancer panel to prepare DNA libraries before sequencing. RESULTS: The Iranian cohort exhibited 35 hotspot mutations in the BRAF , ERBB4 , FBXW7 , FGFR1 , FGFR3 , KRAS , MAP2K , MET , NRAS , PIK3C , SMAD4 , and TP53 genes...
2024: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
#40
EDITORIAL
Noriomi Matsumura
No abstract text is available yet for this article.
April 2024: International cancer conference journal
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