Migration of primordial germline cells is negatively regulated by surrounding somatic cells during early embryogenesis in Drosophila melanogaster by N. V. Dorogova, A. S. Khruscheva, Iu. A. Galimova, D. Yu. Oshchepkov, D. E. Maslov, E. D. Shvedkina, K. A. Akhmetova, S. A. Fedorova

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Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management by Mario A. Hermsen, María A. Sevilla, José Luis Llorente, Marjan M. Weiss, Anneliese Grimbergen, Eva Allonca, Cristina Garcia-Inclán, Milagros Balbín, Carlos Suárez

“…Almost all familial and 11–29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. …”
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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate by Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló, Jesús del Valle, Conxi Lázaro

“…Abstract Background Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. …”
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER by Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni

Subjects: “…Myeloid Neoplasms; Germline mutations…”
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Insights from the single-cell level: lineage trajectory and somatic-germline interactions during spermatogenesis in dwarf surfclam Mulinia lateralis by Yajuan Li, Huilan Wei, Xiaoting Dai, Lijing Zhang, Liangjie Liu, Xiaomei Chen, Tian Liu, Ya Shu, Yaxin Yang, Shi Wang, Zhenmin Bao, Lingling Zhang

“…Furthermore, our findings revealed that there is extensive bidirectional communication between the somatic cells and the germline cells, including the FGF and TGF-β signaling pathways, as well as other ligand-receptor pairs, such as NTN1-NEO1 and PLG-PLGRKT. …”
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Therapeutic Potential of <i>Lappula patula</i> Extracts on Germline Development and DNA Damage Responses in <i>C. elegans</i> by Qinghao Meng, Anna Hu, Weiyu Xiao, Robert P. Borris, Hyun-Min Kim

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Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location by Christopher Wills, Katie Watts, Amy Houseman, Timothy S. Maughan, David Fisher, Nada A. Al-Tassan, Richard S. Houlston, Valentina Escott-Price, Jeremy P. Cheadle

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EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report by Hiroyuki Fujii, MD, Yusuke Okuma, MD, PhD, Makoto Hirata, MD, PhD, Yuki Shinno, MD, PhD, Tatsuya Yoshida, MD, PhD, Yasushi Goto, MD, PhD, Hidehito Horinouchi, MD, PhD, Noboru Yamamoto, MD, PhD, Yuichiro Ohe, MD, PhD

“…Further research is warranted to delineate the impact of germline variants on treatment outcomes and secondary cancer prevention in lung cancer.…”
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The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation by Krishna Gundabolu, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, Allison M. Cushman-Vokoun

“…We outline the evidence supporting the pathogenic role of SH2B3 p.E395K germline mutation, connecting the dots of association between autoimmune diseases and CMML genesis.…”
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Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma by Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta, Daniele Guasti, Daniele Bani, Massimo Mannelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Tonino Ercolino, Letizia Canu

“…Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. …”
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Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy by Zhuangzhuang Zhang, Jianwen Deng, Weiping Sun, Zhaoxia Wang

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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion by Carlotta Giani, Teresa Ramone, Cristina Romei, Raffaele Ciampi, Alessia Tacito, Laura Valerio, Laura Agate, Clara Ugolini, Michele Marinò, Fulvio Basolo, Alessandro Franchi, Simona Borsari, Angela Michelucci, Cesare Selli, Gabriele Materazzi, Filomena Cetani, Rossella Elisei

“…The CT scan showed a megacolon and described the persistence of the pelvic tumor. A new RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. …”
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Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients by A. S. Tsukanov, N. I. Pospehova, V. P. Shubin, I. Yu. Sachkov, S. N. Zhdankina, A. A. Ponomarenko, E. G. Rybakov, S. I. Achkasov, V. N. Kashnikov, S. A. Frolov, Yu. A. Shelygin

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Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large‐scale rearrangement for the diagnosis of cancer predisposition by Sandy Chevrier, Corentin Richard, Marie Mille, Denis Bertrand, Romain Boidot

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Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersResearch in context by Pedro A.F. Galante, Gabriela D.A. Guardia, Janina Pisani, Renata L. Sandoval, Mateus C. Barros-Filho, Ana Carolina Leite Vieira Costa Gifoni, Diogo F.C. Patrão, Patricia Ashton-Prolla, Vitor Fiorin de Vasconcellos, Claire Freycon, Arnold Levine, Pierre Hainaut, Maria Isabel Achatz

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Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial by Mélanie Godiveau, Mélanie Godiveau, Mélanie Godiveau, Angeline Ginzac, Angeline Ginzac, Angeline Ginzac, Yannick Bidet, Yannick Bidet, Flora Ponelle-Chachuat, Flora Ponelle-Chachuat, Maud Privat, Maud Privat, Xavier Durando, Xavier Durando, Xavier Durando, Xavier Durando, Mathias Cavaillé, Mathias Cavaillé, Mathis Lepage, Mathis Lepage

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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

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PIWI proteins and piRNAs: key regulators of stem cell biology by Fernando Claro-Linares, Patricia Rojas-Ríos

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Germline Human Leukocyte Antigen Status is Associated With Immunotherapy-Induced Pneumonitis and Treatment Response in Patients With Non–Small Cell Lung Cancer With High Programmed Death-Ligand 1 Expression by Alvin H.K. Cheung, MBBS, PhD, Zeta Mui, MPhil, Walter W. Yeung, PhD, Chit Chow, PhD, Mandy F. Yu, BSc, Olivia H. Chen, MD, PhD, Kit-Yee Wong, MPhil, Fuda Xie, MPhil, Yat Ming Lau, MBBS, Alfred S-L. Cheng, PhD, Wei Kang, PhD, Ka-Fai To, MBChB, Tony S. Mok, MD, Molly S.C. Li, MBBS

“…Results: It was observed that the germline HLA-C homozygosity and HLA-DRB1∗13 expression were related to a worse progression-free survival and treatment response. …”
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Germline Single-Nucleotide Polymorphism <i>GFI1-36N</i> Causes Alterations in Mitochondrial Metabolism and Leads to Increased ROS-Mediated DNA Damage in a Murine Model of Human Acute Myeloid Leukemia by Jan Vorwerk, Longlong Liu, Theresa Helene Stadler, Daria Frank, Helal Mohammed Mohammed Ahmed, Pradeep Kumar Patnana, Maxim Kebenko, Eva Dazert, Bertram Opalka, Nikolas von Bubnoff, Cyrus Khandanpour

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