Radiation-induced impacts on mitochondrial DNA and the transgenerational genomic instability by Ryosuke Seino, Haruka Kubo, Kai Nishikubo, Hisanori Fukunaga

“…Background: Mitochondrial genomes are dynamically evolving and are shaped by somatic mutation and selection throughout the female germline. In this study, we investigated the radiation-induced impacts on mitochondrial DNA in vitro and in vivo, as well as the transgenerational inheritance. …”
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Functionalized Nanomaterials In Pancreatic Cancer Theranostics And Molecular Imaging by Yoghalakshmi Nagarajan, Natarajan Chandrasekaran, Venkatachalam Deepa Parvathi

“…Over the years, research has characterised germline predisposition, the origin cell, precursor lesions, genetic alterations, structural alterations, transcriptional changes, tumour heterogeneity, metastatic progression, and the tumour microenvironment, which has improved the understanding of PDAC carcinogenesis. …”
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<i>Weizmannia coagulans</i> BC99 Attenuates Oxidative Stress Induced by Acute Alcoholic Liver Injury via Nrf2/SKN-1 Pathway and Liver Metabolism Regulation by Ying Wu, Cheng Li, Yinyin Gao, Jie Zhang, Yao Dong, Lina Zhao, Yuwan Li, Shaobin Gu

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Pheochromocytoma in Congenital Cyanotic Heart Disease by Carmen Aresta, Gianfranco Butera, Antonietta Tufano, Giorgia Grassi, Livio Luzi, Stefano Benedini

“…The patient underwent left open adrenalectomy after preconditioning with α- and β-blockers and histopathological examination confirmed the diagnosis of pheochromocytoma (Ki-67<5%). Screening for germline mutations did not show any genes mutation (investigated mutations: RET, TMEM127, MAX, SDHD, SDHC, SDHB, SDHAF2, SDHA, and VHL). …”
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Regulation of NK cell development, maturation, and antitumor responses by the nuclear receptor NR2F6 by Johannes Woelk, Florian Hornsteiner, Stephanie Aschauer-Wallner, Patrizia Stoitzner, Gottfried Baier, Natascha Hermann-Kleiter

“…Despite normal NK cell development in the bone marrow, germline Nr2f6-deficient mice exhibit impaired terminal maturation of NK cells in the periphery. …”
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Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6 by Blaine A. Bates, Kylee E. Bates, Spencer A. Boris, Colin Wessman, David Stone, Justin Bryan, Mary F. Davis, Matthew H. Bailey

“…Summary: Using rare cancer predisposition alleles derived from The Cancer Genome Atlas (TCGA) and high cancer prevalence (14% of participants) in All of Us (version 6), we assessed the impact of these rare alleles on cancer occurrence in six broad groups of genetic similarity provided by All of Us: African/African American (AFR), Admixed American/Latino (AMR), East Asian (EAS), European (EUR), Middle Eastern (MID), or South Asian (SAS). We observed that germline susceptibility to cancer consistently replicates in EUR-like participants but less so in other participants. …”
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Diagnosis and treatment of thyroblastoma: a case report and review of literature by Xiting Chen, Xiting Chen, Lijuan Xiong, Lijuan Xiong, Hongling Liu, Haoqiang Wang, Donghai Cheng, Wei Wang, Wenyuan He, Bo Xie, Juan Zhou

“…Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. …”
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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…Abstract Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations or through inherited germline mutations of CCM genes. This study aimed to clarify the clinical, genetic, and pathological features of CCMs using a multicenter cohort across three Chinese centers. …”
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A case of de novo neuroendocrine prostate cancer presented with elevated level of serum CEA carrying BRCA2 mutation: case report and literature review by Weizhe Han, Nihati Rexiati, Fang Yu, Yongzhi Wang, Yueli Tian, Jianyuan Wu, Gang Wang, Tao Liu, Zhonghua Yang

“…Immunohistochemistry (IHC) staining and next generation sequencing demonstrated a strong expression of chromogranin A (CgA), synaptophysin (SYN) and CEA, and a germline mutation in BRCA2, respectively. After a prostatic massage, an increased level of CEA (137 ng/ml vs 5 ng/ml) was detected in urine. …”
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A novel strategy for the protective effect of ginsenoside Rg1 against ovarian reserve decline by the PINK1 pathway by Pengdi Yang, Meiling Fan, Ying Chen, Dan Yang, Lu Zhai, Baoyu Fu, Lili Zhang, Yanping Wang, Rui Ma, Liwei Sun

“…Protein expression levels in the PINK1/Parkin pathway were assessed, and molecular docking and PINK1 mutant analyses were conducted to identify potential targets.Results Ginsenoside Rg1 significantly mitigated ovarian reserve decline, enhancing offspring quantity and quality, increasing the levels of ecdysteroids, preventing ovarian atrophy, and elevating germline stem cell numbers in aged Drosophila. Ginsenoside Rg1 improved superoxide dismutase, catalase activity, and gene expression while reducing reactive oxygen species levels. …”
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CRISPR-Cas9 in Cardiovascular Medicine: Unlocking New Potential for Treatment by Klaudia Bonowicz, Dominika Jerka, Klaudia Piekarska, Janet Olagbaju, Laura Stapleton, Munirat Shobowale, Andrzej Bartosiński, Magdalena Łapot, Yidong Bai, Maciej Gagat

“…This article also explores the ethical and regulatory considerations surrounding gene editing technologies, emphasizing the implications of somatic versus germline modifications. Future research efforts should aim to enhance the accuracy of CRISPR-Cas9, improve delivery systems for targeted tissues, and ensure the safety and efficacy of treatments in the long term. …”
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Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer by Angelica Nogueira Rodrigues, Andreza Karine de Barros Almeida Souto, Diocésio Alves Pinto de Andrade, Larissa Müller Gomes, Sandra Satie Koide, Renata de Godoy e Silva, Bruno Batista de Souza, Juliana Doblas Massaro, Andréia Cristina de Melo, Andrea Morais Borges, Camila Giro, Carlos Augusto Vasconcelos de Andrade, Cesar Martins da Costa, Daniel Luiz Gimenes, Eduardo Caminha Bandeira de Mello, Fernanda Cesar de Oliveira, Frederico Müller de Toledo Lima, Gabriel Lima Lopes, Gustavo de Oliveira Bretas, Gustavo Guerra Jacob, Herika Lucia da Costa Silva, Juliana Ferrari Notaro, Lara Ladislau Alves, Marcos Veloso Moitinho, Mirian Cristina da Silva, Roberto Abramoff, Thais Amaral da Cunha Rauber, Rodrigo Dienstmann, Fernanda Christtanini Koyama

“…Approximately 50% of high-grade serous ovarian cancers exhibit HRD, even in the absence of germline or somatic BRCA1/2 loss-of-function mutations. …”
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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

“…Constitutional genetic germline testing identified a pathogenic TP53 variant in line with the clinical features of Li-Fraumeni syndrome. …”
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ANO7 expression in the prostate modulates mitochondrial function and lipid metabolism by Christoffer Löf, Nasrin Sultana, Neha Goel, Samuel Heron, Gudrun Wahlström, Andrew House, Minna Holopainen, Reijo Käkelä, Johanna Schleutker

“…Previous research, including our own, has shown that germline variants in ANO7 are associated with aggressive PrCa. …”
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Expression of Wnt signaling proteins LEF1, β-catenin, GSK3β, DVL1, and N-myc varies across retinoblastoma subtypes and pRb phosphorylation status by Leon Marković, Anja Bukovac, Ana Maria Varošanec, Antonia Jakovčević, Davor Tomas, Zdenko Sonicki, Borna Puljko, Fran Dumančić, Reno Hrašćan, Nives Pećina-Šlaus

“…Retinoblastomas without germline mutations (RB1 +/+) exhibited high pRb, N-myc, and LEF1 levels, while those in genetically predisposed children (RB1 +/- ) showed lower expression of these proteins. …”
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Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma by Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

“…CDC73 gene was screened at germline and somatic levels with no results. Whole exome sequencing performed on DNA extracted from blood leukocytes and tumour tissue revealed a somatic MEN1 gene heterozygous variant, c.912+1G > A, of the splicing donor site of exon 6. …”
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Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer by Alice Faversani, Debora Manuelli, Davide Barteselli, Giulia Melloni, Carlo Santaniello, Luigi Corsaro, Luigi Corsaro, Davide Sacco, Davide Sacco, Davide Clerici, Laura Gargiulo, Fulvio Ferrara, Lucy Costantino

“…Pathogenic/likely pathogenic germline variants in the BRCA1 and BRCA2 genes are associated with an increased risk of developing cancer, particularly breast and/or ovarian tumors. …”
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Frequency and Molecular Characteristics of Mismatch Repair-deficient Status among Multiple Synchronous Colorectal Cancers by Kenichi Chikatani, Noriyasu Chika, Noriko Tanabe, Yoshiko Mori, Okihide Suzuki, Takatoshi Matsuyama, Keiichiro Ishibashi, Hidetaka Eguchi, Yasushi Okazaki, Tatsuro Yamaguchi, Hideyuki Ishida

“…When necessary, MLH1-methylation analysis and testing of germline and somatic MMR genes were performed. Results: In total, 133 patients (33 females) had 309 lesions. …”
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A video intervention to improve patient understanding of tumor genomic testing in patients with cancer by Deloris J. Veney, Lai Y. Wei, Amanda E. Toland, Carolyn J. Presley, Heather L. Hampel, Tasleem J. Padamsee, Clara N. Lee, William J. Irvin Jr, Michael J. Bishop, James J. Kim, Shelly R. Hovick, Leigha A. Senter, Daniel G. Stover

“…Results for five questions significantly improved, including the likelihood of TGT impact on treatment decision, incidental germline findings, and cost of testing. Improvement in video message‐specific knowledge was consistent across demographic groups, including age, income, and education. …”
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Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays by Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle

“…Conclusions In conclusion, this study enhances the integration of splicing predictions and provides splicing assay data for exonic variants to support TP53 germline classification. Graphical abstract…”
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