Results 61 to 70 of about 137,826 (378)

UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors [PDF]

, 2020
Genomic instability can be a hallmark of both human genetic disease and cancer. We identify a deleterious UBQLN4 mutation in families with an autosomal recessive syndrome reminiscent of genome instability disorders.
Beleggia, Filippo, Bustos, Matias A., Checa Rodríguez, Cintia, Goergens, Jonas, Huertas Sánchez, Pablo, Isensee, Jörg, Jachimowicz, Ron D., Velpula, Bhagya Bhavana   +7 more
core   +1 more source

Genomic Signature of Homologous Recombination Deficiency in Breast and Ovarian Cancers

Bio-Protocol, 2013
Homologous recombination deficiency, mainly resulted from BRCA1 or BRCA2 inactivation (so called BRCAness), is found in breast and ovarian cancers. Detection of actual inactivation of BRCA1/2 in a tumor is important for patients’ treatment and follow-up ...
Popova Tatiana, Elodie Manié, Marc-Henri Stern   +2 more
doaj   +1 more source

Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers

Nature Communications, 2020
BRCA-deficient breast cancer is characterised by homologous recombination deficiency. Here, the authors show that hypermethylated BRCA1 phenotypically copies mutated BRCA1 in triple negative breast cancers.
Dominik Glodzik, Ana Bosch, Johan Hartman, Mattias Aine, Johan Vallon-Christersson, Christel Reuterswärd, Anna Karlsson, Shamik Mitra, Emma Niméus, Karolina Holm, Jari Häkkinen, Cecilia Hegardt, Lao H. Saal, Christer Larsson, Martin Malmberg, Lisa Rydén, Anna Ehinger, Niklas Loman, Anders Kvist, Hans Ehrencrona, Serena Nik-Zainal, Åke Borg, Johan Staaf   +22 more
doaj   +1 more source

Prediction of homologous recombination deficiency from cancer gene expression data

Journal of International Medical Research, 2022
Objective Homologous recombination deficiency (HRD) is the main mechanism of tumorigenesis in some cancers. HRD causes abnormal double-strand break repair, resulting in genomic scars.
Jun Kang, Jieun Lee, Ahwon Lee, Youn Soo Lee   +3 more
doaj   +1 more source

Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma

Journal of Clinical Oncology, 2023
PURPOSE To determine the genetic predisposition underlying pancreatic acinar cell carcinoma (PACC) and characterize its genomic features. METHODS Both somatic and germline analyses were performed using an Food and Drug Administration–authorized matched ...
D. Mandelker, A. Marra, Binbin Zheng-Lin, P. Selenica, J. Blanco-Heredia, Yingjie Zhu, Andrea M Gazzo, D. Wong, Zarina Yelskaya, Vikas Rai, Joshua Somar, Silvana Ostafi, Nikita Mehta, Ciyu Yang, Yirong Li, David N. Brown, E. D. da Silva, X. Pei, I. Linkov, P. Terraf, M. Misyura, O. Ceyhan-Birsoy, M. Ladanyi, M. Berger, F. Pareja, Z. Stadler, K. Offit, N. Riaz, Wungki Park, J. Chou, M. Capanu, M. Koehler, Ezra Y. Rosen, E. O’Reilly, J. Reis-Filho   +34 more
semanticscholar   +1 more source

Rad54: the Swiss Army knife of homologous recombination? [PDF]

, 2006
Homologous recombination (HR) is a ubiquitous cellular pathway that mediates transfer of genetic information between homologous or near homologous (homeologous) DNA sequences. During meiosis it ensures proper chromosome segregation in the first division.
Heyer, Wolf-Dietrich, Li, Xuan, Rolfsmeier, Michael, Zhang, Xiao-Ping   +3 more
core   +2 more sources

PARP inhibitors for homologous recombination-deficient prostate cancer [PDF]

Expert Opinion on Emerging Drugs, 2018
Prostate adenocarcinoma represents a leading cause of cancer-related mortality. Increased emphasis on understanding the molecular basis of prostate cancer has identified a substantial burden of homologous recombination (HR) pathway mutations, which are enriched in castrate-resistant disease.
Eric S, Christenson, Emmanuel S, Antonarakis   +1 more
openaire   +2 more sources

Determining PARP Inhibition as a Treatment Strategy in Melanoma Based on Homologous Recombination Deficiency-Related Loss of Heterozygosity.

The Journal of the National Comprehensive Cancer Network, 2023
There is a lack of effective treatments for immunotherapy-refectory melanoma. Although PARP inhibitors (PARPi) are an effective treatment strategy in cancers with homologous recombination deficiency (HRD), determining HRD status is challenging in ...
A. Zhou, Omar H. Butt, M. Ansstas, E. Mauer, K. Khaddour, G. Ansstas   +5 more
semanticscholar   +1 more source

A requirement for STAG2 in replication fork progression creates a targetable synthetic lethality in cohesin-mutant cancers. [PDF]

, 2019
Cohesin is a multiprotein ring that is responsible for cohesion of sister chromatids and formation of DNA loops to regulate gene expression. Genomic analyses have identified that the cohesin subunit STAG2 is frequently inactivated by mutations in cancer.
Ashworth, Alan, Goode, Benjamin, Mondal, Gourish, Solomon, David A, Stevers, Meredith   +4 more
core   +2 more sources

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
core   +1 more source