Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome by Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura

“…Abstract Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. …”
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GENETIC PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES IN CHILDHOOD AND ADOLESCENCE by Francesco Fabozzi, Angela Mastronuzzi

“…This review provides an overview of germline mutations that predispose to hematologic malignancies, focusing on those most common during childhood and adolescence, based on the new International Consensus Classification of Myeloid and Lymphoid Neoplasms. …”
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Understanding cancer predisposition in Singapore: what’s next by Jianbang Chiang, Tarryn Shaw, Joanne Ngeow

“…These include the potential for finding unexpected germline variants through somatic tumour testing, optimal risk management of patients with hereditary conditions involving moderate-penetrance genes, role of polygenic risk score in an under-represented Asian population, management of variants of uncertain significance, clinical trials in patients with germline pathogenic variants and technology in genetic counselling. …”
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ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report by M. J. Ferreira, J. Pedro, D. Salazar, C. Costa, J. Aragão Rodrigues, M. M. Costa, A. Grangeia, J. L. Castedo, D. Carvalho

“…Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, in armadillo repeat containing 5 (ARMC5) gene. …”
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It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer by Patsy W. P. Lee, Scott W. Strum, Elena Tsvetkova

“…We hypothesize that his outcomes are attributable, in part, to a germline BRCA2 deletion and somatic GNAS substitution. …”
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Seahorse nanos3 plays essential roles in germ cell development in the absence of nanos2 by Lingzhen Chen, Lu Tang, Qiang Lin, Yanhong Zhang

“…Nanos, which encodes conserved zinc-finger RNA-binding proteins, play essential roles for germline development in both vertebrates and invertebrates. …”
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A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening by Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim

“…We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified by chromosomal microarray and FISH after noninvasive prenatal genetic screening (cfDNA) results discordant with family history. …”
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Humatch - fast, gene-specific joint humanisation of antibody heavy and light chains by Lewis Chinery, Jeliazko R. Jeliazkov, Charlotte M. Deane

“…We show that these CNNs, alongside germline similarity, can be used for fast humanization that aligns well with known experimental data. …”
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Understanding cancer from an evolutionary perspective: high-risk reprogramming of genome-damaged stem cells by Vladimir F. Niculescu

“…The ECCB analysis reveals the essence of the non-gametogenic germline of the AMF ancestor, which serves as a blueprint for all metazoan germlines and stem cell lineages and controls the life cycle of cancer. …”
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Impact of population screening for Lynch syndrome insights from the All of Us data by Jiheum Park, Hemanth Karnati, Sheila D. Rustgi, Chin Hur, Xiao-Fei Kong, Fay Kastrinos

“…The results suggest that population-based germline testing for LS may identify up to 63.2% of carriers who might remain undetected due to lack of personal or family cancer history. …”
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A face-off between Smaug and Caspar modulates primordial germ cell count and identity in Drosophila embryos by Girish Deshpande, Subhradip Das, Adheena Elsa Roy, Girish S Ratnaparkhi

“…Proper formation and specification of Primordial Germ Cells (PGCs) is of special significance as they gradually transform into Germline Stem Cells (GSCs) that are ultimately responsible for generating the gametes. …”
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Regeneration in the absence of canonical neoblasts in an early branching flatworm by Ludwik Gąsiorowski, Chew Chai, Andrei Rozanski, Gargi Purandare, Fruzsina Ficze, Athanasia Mizi, Bo Wang, Jochen C. Rink

“…Furthermore, the cohort of germline multipotency genes, which are considered canonical neoblast markers, are not expressed in dividing cells, but in the germline instead, and we experimentally show that they are neither necessary for proliferation nor regeneration. …”
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Spherical harmonics texture extraction for versatile analysis of biological objects. by Oane Gros, Josiah B Passmore, Noa O Borst, Dominik Kutra, Wilco Nijenhuis, Timothy Fuqua, Lukas C Kapitein, Justin M Crocker, Anna Kreshuk, Simone Köhler

“…Our method can also quantify morphological differences in Caenorhabditis elegans germline nuclei, which lack a predefined pattern. We show that the classification of germline nuclei using their Spherical Texture outperforms a convolutional neural net when training data is limited. …”
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Intergenerational transport of double-stranded RNA in C. elegans can limit heritable epigenetic changes by Nathan M Shugarts Devanapally, Aishwarya Sathya, Andrew L Yi, Winnie M Chan, Julia A Marre, Antony M Jose

“…Loss of SID-1 enhances initiation of heritable RNA silencing within the germline and causes changes in the expression of the sid-1-dependent gene sdg-1 that last for more than 100 generations after restoration of SID-1. …”
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From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with SDHB Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass by Izabella Freitas, Anna Albuquerque, Luiz de Marco, null Eduardo, José Renan Melo, Juliana Drummond, Beatriz Rocha

“…Forty percent of the patients with PHEO/PGL have an underlying germline mutation. SDHB mutation is frequently associated with metastatic disease and dominant secretion of noradrenaline and/or dopamine. …”
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Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report by Mercedes Aguilar-Soto, Julia M. Zuarth-Vázquez, Laura Leyva-Figueroa, Karla Zarco-Ávila, Armando Gamboa-Domínguez, Aldo Eguiluz-Melendez, Laura C. Hernández-Ramírez

“…He had a personal and family history of NF1 and carried the germline pathogenic variant NF1 (NM_001042492.3): c.147C>A, p.Y49*. …”
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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update by Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks

“…In addition to the germline events, somatic 16p loss-of-heterozygosity and 104 different somatic events are described. …”
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Chromatin remodeling (SWI/SNF) complexes, cancer, and response to immunotherapy by Razelle Kurzrock, Shumei Kato, Nithya Krishnamurthy, Scott Lippman

“…SMARCA4 loss is the hallmark of small cell carcinoma of the ovary hypercalcemic type (and is found in a variety of other malignancies); SMARCA4 germline alterations lead to rhabdoid tumor predisposition syndrome-2; SMARCB1 germline alterations, rhabdoid tumor predisposition syndrome-1. …”
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Improvements in pig agriculture through gene editing by Kristin M. Whitworth, Jonathan A. Green, Bethany K. Redel, Rodney D. Geisert, Kiho Lee, Bhanu P. Telugu, Kevin D. Wells, Randall S. Prather

“…Concordant with the developments in genomic sequencing approaches, progress among germline editing efforts is expected to reach feverish pace. …”
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Unexpected inheritance: multiple integrations of ancient bornavirus and ebolavirus/marburgvirus sequences in vertebrate genomes. by Vladimir A Belyi, Arnold J Levine, Anna Marie Skalka

“…Integrations are generally limited to one or very few copies of a related viral gene per species, suggesting that once the initial germline integration was obtained (or selected), later integrations failed or provided little advantage to the host. …”
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