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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Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies by Giulia Mammone, Simona Borghesi, Nicolò Borsellino, Anna Caliò, Roberta Ceccarelli, Alessia Cimadamore, Giario Natale Conti, Laura Cortesi, Rolando Maria D’Angelillo, Gaetano Facchini, Lorena Incorvaia, Alberto Lapini, Luigi Mearini, Giovanni Pappagallo, Paolo Prontera, Daniela Turchetti, Grazia Sirgiovanni, Sergio Bracarda, on behalf of the Italian Society of Uro-Oncology (SIUrO)

“…Abstract Prostate cancer (PCa) ranks among the most prevalent malignancies in men, with notable associations to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome, both linked to germline likely pathogenetic variant/pathogenetic variant (LPV/PV) in genes involved in DNA repair. …”
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T-cell receptor beta variable gene polymorphism predicts immune-related adverse events during checkpoint blockade immunotherapy by Linghua Wang, Siqing Fu, Aung Naing, Funda Meric-Bernstam, Carl Morrison, Joud Hajjar, Mingxuan Xu, Anas Alshawa, Bettzy Stephen, Ying Yuan, Jordi Rodon Ahnert, Abdulrazzak Zarifa, Shrutii Sarda, Timothy Looney, Sapna P Patel, Geoffrey M Lowman, Dzifa Yawa Duose, Jeffrey M Conroy, Evan Kwiatkowski

“…We employed multiplex PCR to create amplicons spanning the three beta chain complementarity-determining regions (CDR) regions to enable detection of polymorphism within the germline-encoded framework and CDR1 and CDR2 regions in addition to CDR3 profiling. …”
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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

“…Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. …”
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Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient by Tiphaine Goletto, Flora Crockett, Selim Aractingi, Cecile Toper, Patricia Senet, Jacques Cadranel, Jean-Marc Naccache

“…Although telomere length, with or without germline mutation, is known to be associated with interstitial lung disease, the latter is not associated with WS. …”
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Multiple Factors Determine the Oncolytic or Carcinogenic Effects of TLRs Activation in Cancer by Yingxiang Yang, Chengyue Jin, Anthony Yeo, Bo Jin

“…Toll-like receptors (TLRs) belong to a germline-encoded protein family. These are pattern recognition receptors. …”
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SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes by Heather Choat, Kerri Derrevere, Lisa Knight, Whitney Brown, Elizabeth H. Mack

“…In children less than 18 years of age approximately 60% of pheochromocytomas and paragangliomas are associated with a germline mutation. We present an 11-year-old child with an abdominal paraganglioma related to a succinate dehydrogenase subunit B gene mutation whose father had a previously resected abdominal paraganglioma and was found to carry the same mutation. …”
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PTEN Gene: A Model for Genetic Diseases in Dermatology by Corrado Romano, Carmelo Schepis

“…Since 1997, its involvement in tumor suppression has smoothly increased, up to the current importance. Germline mutations of PTEN cause the PTEN hamartoma tumor syndrome (PHTS), which include the past-called Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Proteus-like, and Lhermitte-Duclos syndromes. …”
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Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings by Martin Barnes, Victoria Shklar, Dipen Patel, Harry Staszewski

“…Due to our patient’s young age and concern that she may have a more serious marrow disorder, genetic testing was pursued. Germline testing in the LBR gene revealed a heterozygous pathogenic mutation, namely, the PR57837.17 variant, confirming the diagnosis of hereditary disease. …”
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Novel Implications in Molecular Diagnosis of Lynch Syndrome by Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo

“…The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. …”
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Multiple Adenomatous Duodenal Polyposis by Zdena Zádorová, Jan Hajer, Václav Mandys

“…Afterwards we screened the patient for germline MYH mutations using the denaturing high-performance liquid chromatography (DHPLC) in combination with sequencing. …”
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The Expanding Role for Retinoid Signaling in Heart Development by Loretta L. Hoover, Elizabeth G. Burton, Bonnie A. Brooks, Steven W. Kubalak

“…Experiments performed over 50 years ago showed that too much or too little maternal intake of vitamin A proved detrimental for embryos, resulting in a cadre of predictable cardiac developmental defects. Germline and conditional knockout mice have revealed which molecular players in the vitamin A signaling cascade are potentially responsible for regulating specific developmental events, and many of these molecules have been temporally and spatially characterized. …”
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Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome by Othmane Miri, Nicolas Bonnet, Philippe Lysy, Naima Loucheur, René Gayito, Pierre Louis Docquier

“…We report the case of an 8-year-old boy with a typical clinical picture of Noonan syndrome with a de novo germline mutation of PTPN11 (c.854 T>C). During his follow-up, the patient developed multifocal pigmented villonodular synovitis which first affected the left knee and shortly after both elbows.…”
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Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature by Siobhan S. Pattwell, Eric Q. Konnick, Yajuan J. Liu, Rebecca A. Yoda, Laligam N. Sekhar, Patrick J. Cimino

“…Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. …”
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Annexin A8 deficiency delays atherosclerosis progression by Carmen Gutiérrez‐Muñoz, Rafael Blázquez‐Serra, Irene San Sebastian‐Jaraba, Sandra Sanz‐Andrea, Maria J. Fernández‐Gómez, Gonzalo Nuñez‐Moreno, Pablo Mínguez, Joan Carles Escolá‐Gil, Paula Nogales, Veronique Ollivier, Jose L. Martín‐Ventura, Benoit Ho‐Tin Noe, Ursula Rescher, Nerea Méndez‐Barbero, Luis M. Blanco‐Colio

“…Moreover, AnxA8 was upregulated in human atherosclerotic plaques. Germline deletion of AnxA8 decreased the atherosclerotic burden, the size and volume of atherosclerotic plaques in the aortic root. …”
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Efficacy of PARPi re-maintenance therapy for recurrent ovarian cancer by Yulin Wang, Yunjie Yang, Binghong Guo, Binghong Guo, Xiaoyan Li, Renakezi Tuersun, Ye Cao, Jundong Li, Jihong Liu, Su Li, Tao Liu, Yongwen Huang

“…Only nonsense mutation (p.Gln1037, p.Cys328, p.Leu1072) occur in BRCA germline gene with re-treatment with PARPi might be suboptimal. …”
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Mutation at the Human D1S80 Minisatellite Locus by Kuppareddi Balamurugan, Martin L. Tracey, Uwe Heine, George C. Maha, George T. Duncan

“…We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. …”
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. …”
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