Birt-Hogg-Dubé Syndrome: Report of a New Mutation by Habib U Rehman

“…Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. …”
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Genomic Imprinting and Cancer: From Primordial Germ Cells to Somatic Cells by Adele Murrell

“…The mechanisms whereby imprinting is maintained in somatic cells and then erased and reset in the germline parallels epigenetic changes that cancer cells undergo. …”
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Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer by Wen Wen, Sen Zhao, Yiwen Jiang, Chengzhu Ou, Changyuan Guo, Ziqi Jia, Jiayi Li, Yansong Huang, Hengyi Xu, Pengming Pu, Tongxuan Shang, Lin Cong, Xiang Wang, Nan Wu, Jiaqi Liu

“…Initial screening targeted BRCA1/2 variants followed by GS to identify pathogenic/likely pathogenic germline variants through a 3-tiered classification. …”
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Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature by B. Wormald, S. Elorbany, H. Hanson, J. W. Williams, S. Heenan, D. P. J. Barton

“…We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. …”
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Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis by Quynh Tran Thuy Huong, Linh Tran Nguyen Truc, Hiroko Ueda, Kenji Fukui, Koichiro Higasa, Yoshinori Sato, Shinichi Takeda, Motoshi Hattori, Hiroyasu Tsukaguchi

“…Exome analysis showed that patient 2 harbors a germline <i>LZTR1</i> p.Arg68Gly variant, while patient 1 has no schwannomatosis-related mutations. …”
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Functional annotation of variants from healthy individuals by Jean Lee, Sung Eun Hong

“…The implications of germline de novo variants (DNVs) in diseases are well documented. …”
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Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas by E. N. Lukyanova, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva

“…The majority of the mutations were germline that can apparently be associated with annotation errors in 1000 Genomes Pro ject and ExAC. …”
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Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family by Pedro Marques, Sayka Barry, Amy Ronaldson, Arla Ogilvie, Helen L. Storr, Peter J. Goadsby, Michael Powell, Mary N. Dang, Harvinder S. Chahal, Jane Evanson, Ajith V. Kumar, Joan Grieve, Márta Korbonits

“…Introduction. Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). …”
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BARD1 deletion in a patient with suspected hereditary colorectal cancer by Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu

“…Abstract Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. …”
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Implementing recommendations for routine mismatch repair (MMR) immunohistochemistry (IHC) testing of endometrial cancer and subsequent patient management by Jo Morrison, Mohamed Shawky, Maria Murrey

“…All 191 patients diagnosed with endometrial cancer at Somerset NHS Foundation Trust between January 2022 and December 2023 were tested for mis-match repair (MMR) protein immunohistochemistry; germline testing was offered to all 13 who were eligible. …”
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Familial Adenomatous Polyposis—Rendering a Diagnosis Based on Recognition of an Unusual Primary Thyroid Neoplasm by David F. Schaeffer, Eric M. Yoshida, David A. Owen, Kenneth W. Berean

“…In the usual setting, patients with FAP are identified based on their germline mutations and the diagnosis of thyroid neoplasm is made after the FAP diagnosis. …”
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Models and Molecular Markers of Spermatogonial Stem Cells in Vertebrates: To Find Models in Nonmammals by Hyuk Song, Hyun-Jung Park, Won-Young Lee, Kyung Hoon Lee

“…Spermatogonial stem cells (SSCs) are the germline stem cells that are essential for the maintenance of spermatogenesis in the testis. …”
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Natural selection and evolution: evolving concepts by Andre J. van Wijnen, Eric Lewallen

“…Current evolutionary models incorporate different adaptive and non-adaptive processes based on molecular genetic changes and how DNA is modified over time in unicellular species, or in germline versus somatic cells in metazoan species. …”
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Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1 by Grzegorz Piecha, Jerzy Chudek, Andrzej Więcek

“…This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. …”
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A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation by Adamantia Nikolaidi, Irene Konstantopoulou, Nikolaos Pistalmantzian, Florentia Fostira, Drakoulis Yannoukakos, Ilias Athanasiadis

“…The patient underwent germline gene-panel testing for the detection of mutations in cancer predisposing genes. …”
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Autophagy in Macrophages: Impacting Inflammation and Bacterial Infection by Ali Vural, John H. Kehrl

“…They possess an array of germline-encoded pattern recognition receptors/sensors (PRRs) that recognize pathogen-associated molecular patterns (PAMPs) and which activate downstream effectors/pathways to help mediate innate immune responses and host defense. …”
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Advances in PIWI-piRNA function in female reproduction in mammals by Lv Xiaolong, Zhang Hongdao, Wu Ligang

“…PIWI-interacting RNAs (piRNAs), which associate with PIWI clade Argonaute proteins to form piRNA-induced <sc>silencing</sc> complexes (piRISCs) in germline cells, are responsible for maintaining genomic integrity and reproductive function through transcriptional or post-transcriptional suppression of transposable elements and regulation of protein-coding genes. …”
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Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient by Stéfanie Parisien-La Salle, Florence Perreault, Gilles Corbeil, Julie Morisset, Charles Poirier, Catherine Beauregard, Agnès Räkel, Marjorie Labrecque, Martine Tétreault, Martine Tétreault, Christian Cohade, Pasquale Ferraro, Isabelle Bourdeau

“…However, tumoral RNA sequencing unveiled activation of the HIF pathway.ConclusionWe describe a rare case of PCC in a pulmonary transplant recipient, with genetic analyses showing no germline pathogenic variants and no somatic variants in the EPAS1 gene. …”
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Physiological Roles of DNA Double-Strand Breaks by Farhaan A. Khan, Syed O. Ali

“…Under tight spatiotemporal regulation, DSBs serve as a tool for genetic modification, widely used across cellular biology to generate diverse functionalities, ranging from the fundamental upkeep of DNA replication, transcription, and the chromatin landscape to the diversification of immunity and the germline. Growing evidence points to a role of aberrant DSB physiology in human disease and an understanding of these processes may both inform the design of new therapeutic strategies and reduce off-target effects of existing drugs. …”
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miR-1458 is inhibited by low concentrations of Vitamin B6 and targets TBX6 to promote the formation of spermatogonial stem cells in Rugao Yellow Chicken by Qingqing Geng, Cai Hu, Ziduo Zhao, Zhe Wang, Fufu Cheng, Jing Chen, Qisheng Zuo, Yani Zhang

“…It should be noted that most of the germline findings related to miRNAs were obtained by in vitro studies, and in vivo studies are needed to validate our results for clinical applications.…”
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