Article
Multidisciplinary Sciences
Mihoko Saito-Adachi, Natsuko Hama, Yasushi Totoki, Hiromi Nakamura, Yasuhito Arai, Fumie Hosoda, Hirofumi Rokutan, Shinichi Yachida, Mamoru Kato, Akihiko Fukagawa, Tatsuhiro Shibata
Summary: This study analyzes the structural rearrangement landscape of 170 gastric cancer genomes and identifies six rearrangement signatures. Specific rearrangement signatures are associated with driver events and epidemiological backgrounds. Additionally, 27 structural variant hotspots potentially linked to gastric cancer driver genes are discovered.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Mengting Xu, Yuqing Tu, Wenhui Bi, Meijun Z. Lundberg, Isabella Klooster, Jonathan A. Fletcher, Wen-Bin Ou
Summary: This study found that SETDB1 gene inactivation is associated with near-haploidy and TP53 mutations in certain mesothelioma cases. Restoring SETDB1 function can inhibit tumor growth and exert anti-tumor effects by regulating TP53 expression. Targeting the SETDB1 pathway could be an effective strategy for treating this often untreatable tumor.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Juan Jin, Jianing Cao, Bin Li, Ting Li, Jian Zhang, Jun Cao, Mingchun Zhao, Leiping Wang, Biyun Wang, Zhonghua Tao, Xichun Hu
Summary: DDR gene alterations play a crucial role in breast cancer treatment decisions. This study analyzed data from two databases and found that germline DDR mutations were more prevalent in younger patients and those with HER2-negative cancers, and were associated with somatic DDR mutations. Somatic DDR mutations were more frequent in metastatic cancers compared to early breast cancer, and were associated with anticancer immunological phenotypes.
Review
Oncology
Alexander J. Morgan, Athina Giannoudis, Carlo Palmieri
Summary: Breast cancer brain metastases have a distinct genomic landscape compared to primary tumors, with mutations that are absent in the primary breast tumor. Some mutated genes in brain metastases are potential drug targets for treatment, and there is receptor discordancy between primary breast cancers and brain metastases.
Article
Dermatology
G. G. Malouf, X. Lu, R. Mouawad, J. -P. Spano, P. Grange, F. Yan, S. Aractingi, X. Su, N. Dupin
Summary: The study found that aggressive Kaposi sarcoma (KS) differs significantly from indolent KS in terms of tumor mutational burden, with aggressive KS having a higher burden and a larger number of mutations.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Oncology
Isabelle A. van Zeventer, Aniek O. de Graaf, Jonas B. Salzbrunn, Ilja M. Nolte, Priscilla Kamphuis, Avinash Dinmohamed, Bert A. van der Reijden, Jan Jacob Schuringa, Joop H. Jansen, Gerwin Huls
Summary: Knowledge about the evolution of clonal hematopoiesis is crucial for clinical decision-making. This study investigated clonal evolution in a large cohort and found that spliceosome and JAK2 mutations have the highest growth rates, while DNMT3A and TP53 mutations show minimal growth, regardless of cytosis or cytopenia. Individual variability suggests modulation by non-mutation-related factors. The risk for myeloid malignancy is highest for JAK2, spliceosome, or TP53 mutations and is preceded by cytosis or cytopenia. These findings provide important insights for monitoring and managing clonal hematopoiesis and related disorders.
Article
Genetics & Heredity
Marcello Bellusci, Abraham J. Paredes-Fuentes, Eduardo Ruiz-Pesini, Beatriz Gomez, Miguel A. Martin, Julio Montoya, Rafael Artuch, MITOSPAIN Working Grp
Summary: This study provides nationwide epidemiological data for mitochondrial diseases (MD) in Spain, highlighting the incidence rates and genetic information related to the disease. Among pediatric patients, mutations in nuclear DNA genes were more common than mitochondrial DNA genes.
Article
Dermatology
Thiago P. Muniz, Hadas Sorotsky, Yada Kanjanapan, April A. N. Rose, Daniel Araujo, Alexander Fortuna, Danny Ghazarian, Zaid Saeed Kamil, Trevor Pugh, Michelle Mah, Madhuran Thiagarajah, Dax Torti, Anna Spreafico, David Hogg
Summary: Malignant peripheral nerve sheath tumor (MPNST)-like melanoma shares genomic features with cutaneous melanoma and MPNST, but stands out for its frequent loss of function of ZNF331 and SERPINB4.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Review
Genetics & Heredity
Sadaf Naz
Summary: Research has revealed genetic factors contributing to hearing loss in Pakistan, but further exploration is needed regarding various syndromes and mutations. Studies have mainly focused on individuals from Punjab province, indicating the necessity for extension to other regions for a more comprehensive understanding.
Article
Dermatology
F. N. El Sissy, M. Wassef, B. Faucon, D. Salvan, S. Nadaud, F. Coulet, H. Adle-Biassette, F. Soubrier, A. Bisdorff, M. Eyries
Summary: This study characterizes the somatic genetic landscape of extracranial arteriovenous malformations and identifies a correlation between genotype, clinical severity, and angiographic characteristics. Pathogenic somatic variants, predominantly in MAP2K1 and KRAS genes, were found with high prevalence. These findings could lead to new therapeutic options for extracranial arteriovenous malformations.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Hematology
Ella R. Thompson, Tamia Nguyen, Yamuna Kankanige, John F. Markham, Mary Ann Anderson, Sasanka M. Handunnetti, Rachel Thijssen, Paul Sung-Hao Yeh, Constantine S. Tam, John F. Seymour, Andrew W. Roberts, David A. Westerman, Piers Blombery
Summary: This study revealed the clonal complexity of resistance to Bruton tyrosine kinase inhibitors and B-cell lymphoma 2 inhibitors in chronic lymphocytic leukemia through targeted single-cell DNA sequencing. The findings showed mutual exclusivity between multiple resistance mutations, variable clonal co-occurrence of mutations affecting different targeted agents, and multiple independent emergences of identical nucleotide changes leading to canonical resistance mutations.
Article
Agronomy
Jiaojiao Ren, Xiaoyu Zhang, Zongze Li, Penghao Wu
Summary: This study used an F-2 population derived from inbred maize lines to dissect the genetic basis of maternal haploid inducibility (MHI) through QTL analysis and QTL by environment interaction analysis. Ten QTLs for MHI were identified, with three candidate genes involved in seed development. The study provides valuable information for understanding the genetic basis of MHI in maize breeding.
Article
Hematology
HeeJin Cheon, Jeffrey C. Xing, Katharine B. Moosic, Johnson Ung, Vivian W. Chan, David S. Chung, Mariella F. Toro, Omar Elghawy, John S. Wang, Cait E. Hamele, Ross C. Hardison, Thomas L. Olson, Su-Fern Tan, David J. Feith, Aakrosh Ratan, Thomas P. Loughran Jr
Summary: This study investigated the molecular landscape in a large cohort of LGL leukemia patients and identified several recurrent mutations and gene expression differences. The findings shed light on the clinical and molecular heterogeneity of this rare disorder.
Editorial Material
Cell Biology
Irene Franco, Gwladys Revechon, Maria Eriksson
Summary: The causal effects of somatic mutations in the aging process are still not clear due to technological and methodological weaknesses. Studying somatic mutagenesis in different experimental systems can help understand its functional role.
Review
Biochemistry & Molecular Biology
Lois Mourrain, Guylain Boissonneault
Summary: Understanding DNA repair pathways is crucial for maintaining genetic integrity, especially in haploid and diploid organisms, where differences in repair capacity may lead to distinct transgenerational outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)