Interfacial cfDNA Enrichment and Amplification with On‐Chip Thermoplasmonics for Highly Sensitive Cancerous Liquid Biopsy by Danhua Wang, Linlin Liu, Wenjing Chi, Zhenping Liu, Jiayun Wu, Yirou Liang, Fei He, Ruixiang Zhang, Pengxin Huang, Yunbo Li, Guangyu Qiu

“…Typical cfDNA biomarkers, including epidermal growth factor receptor (EGFR), tumor protein 53 (TP53), phosphatase and tensin homologue deleted on chromosome 10 (PTEN), and cyclin‐dependent kinase inhibitor (CDKN2A), are quantified with detection limits down to femtomolar‐level. …”
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MAT2A inhibitor AG-270/S095033 in patients with advanced malignancies: a phase I trial by Mrinal Gounder, Melissa Johnson, Rebecca S. Heist, Geoffrey I. Shapiro, Sophie Postel-Vinay, Frederick H. Wilson, Elena Garralda, Gerburg Wulf, Caroline Almon, Salah Nabhan, Elia Aguado-Fraile, Peng He, Mathilde Romagnoli, Mohammad Hossain, Rohini Narayanaswamy, Amel Sadou-Dubourgnoux, Michael Cooper, Vasileios Askoxylakis, Howard A. Burris, Josep Tabernero

“…Eligible patients had tumors with homozygous deletion of CDKN2A/MTAP and/or loss of MTAP protein by immunohistochemistry. …”
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BRCA1 is involved in sustaining rapid antler growth possibly via balancing of the p53/endoplasmic reticulum stress signaling pathway by Qianqian Guo, Zhen Wang, Jiping Li, Chao Ma, Junjun Zheng, Hengxing Ba, Guokun Zhang, Chunyi Li

“…Associated with this change, the cell apoptosis and cell senescence-relevant-genes, CDKN1A, CDKN2A and Fas were over expressed, but the expression of cell-cycle-progression-related genes was inhibited. …”
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Feline Papillomatosis by Herman Egberink, Katrin Hartmann, Ralf Mueller, Maria Grazia Pennisi, Sándor Belák, Séverine Tasker, Karin Möstl, Diane D. Addie, Corine Boucraut-Baralon, Tadeusz Frymus, Regina Hofmann-Lehmann, Fulvio Marsilio, Etienne Thiry, Uwe Truyen, Margaret J. Hosie

“…Immunostaining of p16CDKN2A protein (p16) can be performed as a proxy marker for PV-induced neoplasms. …”
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Computational network analysis of two popular skin cancers provides insights into the molecular mechanisms and reveals common therapeutic targets by Md Sujan Mahmud, Bikash Kumar Paul, Md. Rakibul Hasan, K.M. Tanjida Islam, Imran Mahmud, Shahin Mahmud

“…Our analysis revealed 22 common genes between BCC and AK: TP53, EGFR, CDKN2A, MMP9, PTGS2, VDR, BCL2, MMP2, EZH2, TP63, FOXP3, MSH2, MMP14, FLG, MC1R, CDKN2B, TIMP3, TYR, SOX10, IRF4, KRT17, and NID1. …”
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Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

“…Subsequent molecular analysis of the osteosarcoma tissue revealed homozygous loss of the CDKN2A gene locus, warranting treatment with CDK4/6 inhibitor palbociclib. …”
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Pathological variants in HPV-independent vulvar tumours by Sanja A. Farkas, Alvida Qvick, Gisela Helenius, Gabriella Lillsunde-Larsson

“…The top 10 frequently mutated genes in HPV-indepentent tumors were TP53, POLE, PTCH1, BRCA2, CREBBP, NOTCH2, ARID1A, CDKN2A, MSH2, and NOTCH1. Three fusion genes were detected; TBL1XR1(1)::PIK3CA(2) (n = 2) and NF1(5)::PSMD11(2) (n = 1). …”
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Establishment of a prognostic signature and immune infiltration characteristics for uterine corpus endometrial carcinoma based on a disulfidptosis/ferroptosis-associated signature by Yong Huang, Huibin Li, Zhifu Wei, Wanshan He, Bin Chen, Shuang Cheng, Zhifang Zhao, Lv Deng, Lv Deng, Xiaohua Chen, Yu Lin, Yu Lin, Xiaoshan Hong, Xiaoshan Hong

“…Finally, we validated the prognostic gene expression profile in clinical samples.ResultsWe identified five optimal DFRGs that were differentially expressed and associated with the prognosis of uterine corpus endometrial carcinoma (UCEC). These genes include CDKN2A, FZD7, LCN2, ACTN4, and MYH10. Based on these DFRGs, we constructed a robust prognostic model with significantly lower overall survival in the high-risk group than in the low-risk group, with differences in tumor burden and immune invasion between the different risk groups. …”
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Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population by Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flores

“…The five most frequent non-BRCA genes were CHEK2, PALB2, MUTYH, CDKN2A, and ATM. Among the group of non-BRCA genes, six are involved in the homologous repair pathway (HR), and three are related to DNA damage repair (DDR) pathways. …”
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The landscape of immunogenic cell death-related genes predicts the overall survival and immune infiltration status of non-small-cell lung carcinoma by Jian Zhang, Huiying Li, Xi Zhang, Yue Yang, Yue Sun

“…Results: Using 17 genes (AIRE, APOH, CDKN2A, CEACAM4, COL4A3, CPA, DBH, F10, FCGRB, FGFR4, MMP1, PGLYRP1, SCGB2A2, SLC9A3, UGT2B17 and VIP), The researchers then created a gene signature that could be used to identify patients with an increased risk of contracting cancer. …”
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Potentially actionable molecular alterations in particular related to poor oncologic outcomes in salivary gland carcinomas by Julia Pikul, Marcin M. Machnicki, Anna Rzepakowska, Natalia Winiarska, Agnieszka Chudy, Albert Moskowicz, Kacper Król, Łukasz Fus, Grażyna Kostrzewa, Tomasz Stokłosa

“…The genes most frequently affected with aberrations were NF1 (n = 9, 24%) and TP53 (n = 8, 22%), with increased occurrence observed in the poor outcome group: NF1 (n = 6, 32%) and TP53 (n = 6, 32%). CDKN2A biallelic deletion was the most common copy number variation (n = 5), and was detected in 4 cases with identified disease relapse. …”
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First Indonesian Nasopharyngeal Cancer Whole Epigenome Sequencing Identify Tumour Suppressor CpG Methylation by Handoko, Adham M, Rachmadi L, Tobing DL, Asmarinah A, Fadilah F, Dai W, Lee AWM, Gondhowiardjo SA

“…Key tumour suppressor genes, such as PRKCB, PLCB3, ITGB3, EPHA2, PLCE1, PRKCD, CDKN2A, CDKN2B, RPS6KA2, ERBB4, LRRC4, AKT1, PPP2R5C, and STK11 were frequently hypermethylated and confirmed to have lower expression in an independent NPC transcriptome cohort, suggesting their role in NPC carcinogenesis. …”
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Protein arginine methyltransferase 7 linked to schizophrenia through regulation of neural progenitor cell proliferation and differentiation by Ting Shen, Jing Yu, Bin Xie, Cuiping Huang, Jingjie Cui, Kefu Liu, Chunyu Liu, Chao Chen

“…Mechanistically, PRMT7 regulates the expression of genes related to the cell cycle and neuronal functions, such as CDKN2A and SYP, via symmetrical di-methylation at arginine 3 of histone 4 (H4R3me2s) modification in their promoters. …”
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Human placental extract improves liver cirrhosis in mice with regulation of macrophages and senescent cells by Natsuki Ishikawa, Yusuke Watanabe, Yuichirou Maeda, Tomoaki Yoshida, Naruhiro Kimura, Hiroyuki Abe, Akira Sakamaki, Hiroteru Kamimura, Takeshi Yokoo, Kenya Kamimura, Atsunori Tsuchiya, Shuji Terai

“…Furthermore, there was a decrease in the number of senescent cells in the liver and the mRNA levels of secrete senescence-associated secretory phenotype factors and Cdkn2a (p16). In vitro, HPE induced macrophage polarization to the anti-inflammatory M2 phenotype. …”
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High p16INK4A expression in glioblastoma is associated with senescence phenotype and better prognosis by Soon Sang Park, Tae Hoon Roh, Yoshiaki Tanaka, Young Hwa Kim, So Hyun Park, Tae-Gyu Kim, So Yeong Eom, Tae Jun Park, In-Hyun Park, Se-Hyuk Kim, Jang-Hee Kim

“…Previous studies have identified a few prognostic markers for GBM, including the methylation status of O6-methylguanine-DNA methyltransferase (MGMT) promoter, TERT promoter mutation, EGFR amplification, and CDKN2A/2B deletion. However, the classification of GBM remains incomplete, necessitating a comprehensive analysis. …”
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Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma by Minh-Khang Le, Masataka Kawai, Kenta Masui, Takashi Komori, Takakazu Kawamata, Yoshihiro Muragaki, Tomohiro Inoue, Ippei Tahara, Kazunari Kasai, Tetsuo Kondo

“…Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: <i>IDH1/2</i>, <i>ATRX</i>, <i>TP53</i> mutations, <i>TERT</i> promoter mutations, <i>CDKN2A/B</i> homozygous deletion (CHD), <i>EGFR</i> amplification (<i>EGFR</i>amp), 7 gain/10 loss (7+/10−), 1p/19q co-deletion, and <i>MGMT</i> promoter methylation. …”
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Detection of cervical precancerous lesions and cancer by small-scale RT-qPCR analysis of oppositely deregulated mRNAs pairs in cytological smears by Anastasia A. Artyukh, Mikhail K. Ivanov, Mikhail K. Ivanov, Sergei E. Titov, Sergei E. Titov, Victoria V. Dzyubenko, Sergey E. Krasilnikov, Sergey E. Krasilnikov, Anastasia O. Shumeikina, Anastasia O. Shumeikina, Anastasia O. Shumeikina, Nikita A. Afanasev, Anastasia V. Malek, Sergei A. Glushkov, Eduard F. Agletdinov

“…With this approach based on a five-mRNA combination (CDKN2A, MAL, TMPRSS4, CRNN, and ECM1), we generated a classifier having ROC AUC 0.935, diagnostic sensitivity 89.7%, and specificity 87.6% for ≥HSIL detection. …”
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A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases by Anthony C. Nichols, Michelle Chan-Seng-Yue, John Yoo, Sumit K. Agrawal, Maud H. W. Starmans, Daryl Waggott, Nicholas J. Harding, Samuel A. Dowthwaite, David A. Palma, Kevin Fung, Bret Wehrli, S. Danielle MacNeil, Philippe Lambin, Eric Winquist, James Koropatnick, Joe S. Mymryk, Paul C. Boutros, John W. Barrett

“…The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53. A damaging nonsynonymous mutation was noted in EP300, a histone acetylase which plays a role in cellular proliferation. …”
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An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma by Michele Massimino, Elena Tirrò, Stefania Stella, Cristina Tomarchio, Sebastiano Di Bella, Silvia Rita Vitale, Chiara Conti, Marialuisa Puglisi, Rosa Maria Di Crescenzo, Silvia Varricchio, Francesco Merolla, Giuseppe Broggi, Federica Martorana, Alice Turdo, Miriam Gaggianesi, Livia Manzella, Andrea Russo, Giorgio Stassi, Rosario Caltabiano, Stefania Staibano, Paolo Vigneri

“…Methods: Following the findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (<i>CYSLTR2</i>, <i>GNA11</i>, <i>GNAQ</i> and <i>PLCB4</i>), prognostic alterations (<i>BAP1</i>, <i>EIF1AX</i>, <i>SF3B1</i> and <i>SRSF2</i>), emergent biomarkers (<i>CDKN2A</i>, <i>CENPE</i>, <i>FOXO1</i>, <i>HIF1A</i>, <i>RPL5</i> and <i>TP53</i>) and chromosomal abnormalities (imbalances in chromosomes 1, 3 and 8). …”
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