Results 51 to 60 of about 137,826 (378)

In-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot study

Journal of Clinical Pathology, 2023
Aims Poly (ADP-ribose) polymerase (PARP) inhibitors (PARPIs) represent a standard of care for the clinical management of high-grade serous ovarian cancer (HGSOC).
F. Pepe, E. Guerini-Rocco, M. Fassan, N. Fusco, D. Vacirca, Alberto Ranghiero, K. Venetis, A. Rappa, S. Taormina, G. Russo, Elena Rebellato, G. Munari, A. Moreno-Manuel, C. De Angelis, C. Zamagni, Giorgio Valabrega, U. Malapelle, G. Troncone, M. Barberis, A. Iaccarino   +19 more
semanticscholar   +1 more source

Homologous Recombination Repair Deficiency and Implications for Tumor Immunogenicity [PDF]

Cancers, 2021
Homologous recombination repair deficiency (HRD) can be observed in virtually all cancer types. Although HRD sensitizes tumors to DNA-damaging chemotherapy and poly(ADP-ribose) polymerase (PARP) inhibitors, all patients ultimately develop resistance to these therapies.
van Wilpe, S., Tolmeijer, S.H., Koornstra, R.H., de Vries, I.J.M., de Vries, I.J.M., Gerritsen, W.R., Ligtenberg, M.J.L., Ligtenberg, M.J.L., Mehra, N.   +8 more
openaire   +3 more sources

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers

JCO Precision Oncology, 2023
PURPOSE Breast and ovarian tumors in germline BRCA1/2 carriers undergo allele-specific loss of heterozygosity, resulting in homologous recombination deficiency (HRD) and sensitivity to poly-ADP-ribose polymerase (PARP) inhibitors. This study investigated
Dylane M. Wineland, Anh N. Le, R. Hausler, G. Kelly, Emanuel Barrett, H. Desai, B. Wubbenhorst, J. Pluta, Paul Bastian, H. Symecko, K. D’Andrea, A. Doucette, P. Gabriel, K. Reiss, A. Nayak, Michael Feldman, S. Domchek, K. Nathanson, K. Maxwell   +18 more
semanticscholar   +1 more source

DNA repair deficiency biomarkers and the 70-gene ultra-high risk signature as predictors of veliparib/carboplatin response in the I-SPY 2 breast cancer trial. [PDF]

, 2017
Veliparib combined with carboplatin (VC) was an experimental regimen evaluated in the biomarker-rich neoadjuvant I-SPY 2 trial for breast cancer. VC showed improved efficacy in the triple negative signature.
Berry, Don, Brown-Swigart, Lamorna, Buxton, Meredith, DeMichele, Angela, Esserman, Laura, Glas, Annuska, Hirst, Gillian, Hylton, Nola, Linn, Sabine, Olopade, Olufunmilayo, Paoloni, Melissa, Petricoin, Emanuel, Rugo, Hope, Sanil, Ashish, Severson, Tesa M, Symmans, Fraser, van 't Veer, Laura, Wolf, Denise M, Wulfkuhle, Julia, Yau, Christina, Yee, Doug   +20 more
core   +2 more sources

Biomarker Assessment of Homologous Recombination Deficiency in Epithelial Ovarian Cancer: Association With Progression-Free Survival After Surgery

Frontiers in Molecular Biosciences, 2022
Identifying BRCA mutations and homologous recombination deficiency (HRD) is the key to choosing patients for poly (ADP-ribose) polymerase inhibitor (PARPi) therapy.
Huan Yi, Linhong Li, Jimiao Huang, Zhiming Ma, Hongping Li, Jian Chen, Xiangqin Zheng, Jingjing Chen, Haixin He, Jianrong Song   +9 more
doaj   +1 more source

A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. [PDF]

, 2008
BackgroundActivated factor X (FXa) is a vitamin K-dependent serine protease that plays a pivotal role in blood coagulation by converting prothrombin to thrombin. There are no reports of humans with complete deficiency of FX, and knockout of murine F10 is
Arruda, VR, Chu, K, Golden, JA, Herzog, RW, High, KA, Labosky, PA, Margaritis, P, Tai, SJ   +7 more
core   +2 more sources

Homologous recombination deficiency in epithelial ovarian cancer [PDF]

memo - Magazine of European Medical Oncology, 2020
SummarySince the introduction of poly-ADP-ribose polymerase (PARP) inhibitor therapy for epithelial ovarian cancer (EOC) patients, testing for aberrations of homologous recombination (HR) repair as a predictive biomarker of therapy response has become an area of particular clinical interest.
Thomas Bartl, Valentina Paspalj, Christoph Grimm   +2 more
openaire   +1 more source

Shallow whole genome sequencing approach to detect Homologous Recombination Deficiency in the PAOLA-1/ENGOT-OV25 phase-III trial

Oncogene, 2023
The bevacizumab (bev)/olaparib (ola) maintenance regimen was approved for BRCA1/2-mutated (BRCAmut) and Homologous Recombination Deficient (HRD) high-grade Advanced Ovarian Cancer (AOC) first line setting, based on a significantly improved progression ...
C. Callens, M. Rodrigues, A. Briaux, E. Frouin, Alexandre Eeckhoutte, E. Pujade-Lauraine, Victor Renault, D. Stoppa-Lyonnet, I. Bièche, Guillaume Bataillon, L. Karayan‐Tapon, Tristan Rochelle, F. Heitz, S. Cecere, M. J. R. Pérez, C. Grimm, Trine Jakobi Nøttrup, N. Colombo, I. Vergote, K. Yonemori, I. Ray-Coquard, Marc-Henri Stern, T. Popova   +22 more
semanticscholar   +1 more source

On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]

, 2012
The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia, De Caris, Laura, Tummala, Hemanth   +2 more
core   +4 more sources