Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation by Lorena Rasquin, Janna Prater, Jane Mayrin, Corrado Minimo

“…Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3rd of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. …”
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Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study by Giulia Magnani, Daniela Furlan, Nora Sahnane, Luca Reggiani Bonetti, Federica Domati, Monica Pedroni

“…Thirty-three patients ≤40 years with diagnosis of colorectal cancer and 41 patients with disease at >60 years of age were investigated for MSI, Mismatch Repair proteins expression, KRAS and BRAF mutations, hypermethylation, and LINE-1 hypomethylation. Detection of germline mutations was performed in Mismatch Repair, APC and MUTYH genes. …”
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Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia by Şule Altıner, Alper Han Çebi

“…It is important to investigate this association because JMLL treatment approaches change in the presence of germline mutations.…”
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Shared genetic factors and the interactions with fresh fruit intake contributes to four types squamous cell carcinomas. by Mengqing Mo, Can Hou, Huangbo Yuan, Renjia Zhao, Mingyang Chen, Yanfeng Jiang, Kelin Xu, Tiejun Zhang, Xingdong Chen, Chen Suo

“…However, the shared common germline genetic factors and environmental factors have not been well elucidated with respect to augmented risk of pan-squamous cell carcinoma(Pan-SCCs). …”
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Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome by Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz

“…Among the 69 MGPT-negative patients, the lack of somatic MLH1 promoter methylation in a patient with a distinguished MLH1 allelic imbalance selected this sample for WGS. This returned a germline deep intronic MLH1 variant, with further functional studies confirming its’ pathogenicity. …”
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Lack of GAGA protein in Trl mutants causes massive cell death in Drosophila spermatogenesis and oogenesis by N. V. Dorogova, A. E. Zubkova, E. V. Fedorova, E. U. Bolobolova, E. M. Baricheva

“…One of the significant disorders was associated with massive degradation and loss of cells in the germline. In this work, we carried out a more detailed cytological study to determine what type of germ cell death is characteristic of Trl mutants, and whether there are disturbances or changes in this process compared to the norm. …”
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Analysis of somatic piRNAs in the malaria mosquito Anopheles coluzzii reveals atypical classes of genic small RNAs by Sergei Funikov, Alexander Rezvykh, Natalia Akulenko, Jiangtao Liang, Igor V. Sharakhov, Alla Kalmykova

“…Piwi-interacting small RNAs (piRNA) play a key role in controlling the activity of transposable elements (TEs) in the animal germline. In diverse arthropod species, including the pathogen vectors mosquitoes, the piRNA pathway is also active in nongonadal somatic tissues, where its targets and functions are less clear. …”
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Structurally convergent antibodies derived from different vaccine strategies target the influenza virus HA anchor epitope with a subset of VH3 and VK3 genes by Ting-Hui Lin, Chang-Chun David Lee, Monica L. Fernández-Quintero, James A. Ferguson, Julianna Han, Xueyong Zhu, Wenli Yu, Jenna J. Guthmiller, Florian Krammer, Patrick C. Wilson, Andrew B. Ward, Ian A. Wilson

“…Despite some diversity in their VH and VK genes, the antibodies interact with the HA through germline-encoded residues in HCDR2 and LCDR3. Somatic mutations on HCDR3 also contribute hydrophobic interactions with the conserved HA epitope. …”
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Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature by Francesca Torresan, Maurizio Iacobone

“…HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 (CDC73) gene that encodes the parafibromin, a 531-amino acid protein with antiproliferative activity. …”
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IL-6 variant is associated with metastasis in breast cancer patients. by Chike O Abana, Brian S Bingham, Ju Hwan Cho, Amy J Graves, Tatsuki Koyama, Robert T Pilarski, A Bapsi Chakravarthy, Fen Xia

“…<h4>Methods</h4>We performed an initial case-control study using Vanderbilt University Medical Center's BioVU, a genomic biobank linked to de-identified electronic medical records in the Synthetic Derivative database, to identify germline SNPs that may predict the development of metastatic disease to any site from any solid tumor including breast cancer. …”
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G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD by Agata M. Parsons, Seth Byrne, Jesse Kooistra, John Dewey, Aaron L. Zebolsky, Gloria Alvarado, Gerrit J. Bouma, Gregory B. Vanden Heuvel, Erik D. Larson

“…Abstract The “secondhit” pathway is responsible for biallelic inactivation of many tumor suppressors, where a pathogenic germline allele is joined by somatic mutation of the remaining functional allele. …”
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Multi-modal comparison of molecular programs driving nurse cell death and clearance in Drosophila melanogaster oogenesis. by Shruthi Bandyadka, Diane P V Lebo, Albert A Mondragon, Sandy B Serizier, Julian Kwan, Jeanne S Peterson, Alexandra Y Chasse, Victoria K Jenkins, Anoush Calikyan, Anthony J Ortega, Joshua D Campbell, Andrew Emili, Kimberly McCall

“…In preparation for oviposition, the germline-derived nurse cells bequeath to the developing oocyte all their cytoplasmic contents and undergo programmed cell death. …”
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Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing by Youbao Sha, J. Bryce Ortiz, Sara L. Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C. ElNaggar, Wenbo Xu

“…Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. …”
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Spatial Transcriptome and Single Nucleus Transcriptome Sequencing Reveals Tetrahydroxy Stilbene Glucoside Promotes Ovarian Organoids Development Through the Vegfa‐Ephb2 Pair by Chunlan Mu, Xiaoyong Li, Jiamei Yang, Geng G. Tian, Hepeng Bai, Wenhui Lin, Linhui Wang, Ji Wu

“…Here, plant‐derived compounds are screened for in vitro activity upon ovarian organoids derived from feeder‐free female germline stem cells. Tetrahydroxy stilbene glucoside (TSG) is found to promote the development of ovarian organoids. …”
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Exploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice. by Yuting Sun, Tingyu Zhou, Silin Ye, Effie Yin Tung Lau, Yao Zeng, Jessie Qiaoyi Liang

“…Apcmin/+ mice, which harbour a germline Apc mutation (g.2549T>A) associated with multiple intestinal neoplasms, are extensively employed in colorectal cancer research. …”
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Frequency and Significance of Abnormal Pancreatic Imaging in Patients with BRCA1 and BRCA2 Genetic Mutations by Elie Chahla, Antonio Cheesman, Suzanne M. Mahon, Robert W. Garrett, Ben P. Bradenham, Theresa L. Schwartz, Louay Omran, Jason R. Taylor, Samer Alkaade

“…Although the majority of cases are believed to occur sporadically, about 10% show familial clustering and studies have identified an increased frequency of BRCA germline mutations. The role of screening for pancreatic adenocarcinoma in these populations is unclear. …”
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics by Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita

“…Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. …”
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Cell Therapy for Chemically Induced Ovarian Failure in Mice by Paula Terraciano, Tuane Garcez, Laura Ayres, Isabel Durli, Melchiani Baggio, Cristiana Palma Kuhl, Claudia Laurino, Eduardo Passos, Ana Helena Paz, Elizabeth Cirne-Lima

“…For cell tracking, adipose derived stem cell GFP+ (ADSC), female germline stem cell GFP+/MVH+ (FGSC), or ovary cell suspension GFP+ mice were transplanted into cisplatin-treated wild-type recipients. …”
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NR2F6 regulates stem cell hematopoiesis and myelopoiesis in mice by Johannes Woelk, Hamsa Narasimhan, Hamsa Narasimhan, Christa Pfeifhofer-Obermair, Barbara U. Schraml, Barbara U. Schraml, Natascha Hermann-Kleiter

“…In this study, we found that adult germline Nr2f6-deficient mice contained increased percentages of total long-term and short-term HSCs, as well as a subpopulation within the lineage-biased multipotent progenitor (MPP3) cells. …”
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Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

“…Moreover, mutations in epigenes have been implicated as causal in germline pediatric disorders and as driver mutations in cancer. …”
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