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Homologous recombination deficiency in breast cancer [PDF]

memo - Magazine of European Medical Oncology, 2020
SummaryBRCAmutation-related DNA repair deficiencies increase the individual sensitivity to DNA-targeting agents. Therefore, the patient’sBRCAmutational status is evaluated in clinical practice as a predictive marker in response to platinum salts and poly-ADP-ribose polymerase (PARP) inhibitors for breast cancer treatment.
Thomas Bartl, Alex Farr
openaire   +1 more source

Homologous recombination proficiency in ovarian and breast cancer patients

BMC Cancer, 2021
Homologous recombination and DNA repair are important for genome maintenance. Genetic variations in essential homologous recombination genes, including BRCA1 and BRCA2 results in homologous recombination deficiency (HRD) and can be a target for ...
Justin Fortune Creeden, Nisha S. Nanavaty, Katelyn R. Einloth, Cassidy E. Gillman, Laura Stanbery, Danae M. Hamouda, Lance Dworkin, John Nemunaitis   +7 more
doaj   +1 more source

Biomarkers for Homologous Recombination Deficiency in Cancer [PDF]

JNCI: Journal of the National Cancer Institute, 2018
Defective DNA repair is a common hallmark of cancer. Homologous recombination is a DNA repair pathway of clinical interest due to the sensitivity of homologous recombination-deficient cells to poly-ADP ribose polymerase (PARP) inhibitors. The measurement of homologous recombination deficiency (HRD) in cancer is therefore vital to the appropriate design
Michal M, Hoppe, Raghav, Sundar, David S P, Tan, Anand D, Jeyasekharan   +3 more
openaire   +2 more sources

Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications [PDF]

The Oncologist, 2021
Abstract Homologous recombination (HR) is a highly accurate DNA repair mechanism. Several HR genes are established cancer susceptibility genes with clinically actionable pathogenic variants (PVs).
MingRen, Toh, Joanne, Ngeow
openaire   +2 more sources

Homologous Recombination Deficiency Scar: Mutations and Beyond—Implications for Precision Oncology [PDF]

Cancers, 2022
Homologous recombination deficiency (HRD) is a prevalent in approximately 17% of tumors and is associated with enhanced sensitivity to anticancer therapies inducing double-strand DNA breaks. Accurate detection of HRD would therefore allow improved patient selection and outcome of conventional and targeted anticancer therapies. However, current clinical
Alexander M. A. van der Wiel, Lesley Schuitmaker, Ying Cong, Jan Theys, Arne Van Hoeck, Conchita Vens, Philippe Lambin, Ala Yaromina, Ludwig J. Dubois   +8 more
openaire   +2 more sources

Utility of Homologous Recombination Deficiency Biomarkers Across Cancer Types [PDF]

JCO Precision Oncology, 2021
PURPOSE Homologous recombination DNA repair deficiency (HRD) is associated with sensitivity to platinum and poly (ADP-ribose) polymerase inhibitors in certain cancer types, including breast, ovarian, pancreatic, and prostate. In these cancers, BRCA1/ 2 alterations and genomic scar signatures are useful indicators for assessing HRD. However, alterations
Shiro Takamatsu, J.B. Brown, Ken Yamaguchi, Junzo Hamanishi, Koji Yamanoi, Hisamitsu Takaya, Tomoko Kaneyasu, Seiichi Mori, Masaki Mandai, Noriomi Matsumura   +9 more
openaire   +3 more sources

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas [PDF]

, 2018
DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic response. We systematically analyzed somatic alterations to provide a comprehensive view of DDR deficiency across 33 cancer types.
Alvaro, Domenico, Andrew D, Cherniack, Bin, Feng, Bragazzi, MARIA CONSIGLIA, Cardinale, Vincenzo, Casey S, Greene, Chase, Miller, Chen, Wang, Christina, Yau, David A, Wheeler, Denise, Wolf, Eve, Shinbrot, Galen F, Gao, Gaudio, Eugenio, Gordon B, Mills, Gregory P, Way, Hai, Hu, Haoran, Chen, Hui, Shen, Huihui, Fan, Ilya, Shmulevich, Jianfang, Liu, John N, Weinstein, Lawrence A, Donehower, Lei, Li, Li, Ding, Linghua, Wang, Matthew H, Bailey, Michael T, Zimmermann, Mostafa, Karimi, Nyasha, Chambwe, Peilin, Jia, Peter W, Laird, Pora, Kim, Raymond J, Monnat, Rehan, Akbani, Shaojun, Zhang, Theo A, Knijnenburg, Yang, Shen, Yonghong, Xiao, Yuexin, Liu, Zhongming, Zhao   +41 more
core   +4 more sources

Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis [PDF]

, 2010
Meiosis is unique to germ cells and essential for reproduction. During the first meiotic division, homologous chromosomes pair, recombine, and form chiasmata.
Choi, Y, Erdin, SU, Kloc, M, Meistrich, ML, Rajkovic, A, Shin, YH, Wang, PJ, Yang, F, Yatsenko, SA   +8 more
core   +5 more sources

Homologous recombination deficiency: how genomic signatures are generated

Current Opinion in Genetics & Development, 2021
Cancer genomes harbor mutational and structural rearrangements that are jointly shaped by DNA damage and repair mechanisms. Accumulating evidence suggests that genetic alterations in DNA repair-defective tumors reflect the scars caused by the use of backup DNA repair mechanisms needed to maintain cellular viability. Detailed analysis of the patterns of
Jeremy, Setton, Jorge S, Reis-Filho, Simon N, Powell   +2 more
openaire   +3 more sources

DNAH2 facilitates the homologous recombination repair of Fanconi anemia pathway through modulating FANCD2 ubiquitination

Blood Science, 2021
. Fanconi anemia (FA), an X-linked genetic or autosomal recessive disease, exhibits complicated pathogenesis. Previously, we detected the mutated Dynein Axonemal Heavy Chain 2 (DNAH2) gene in 2 FA cases.
Lixian Chang, Xingjie Gao, Yuxia Wang, Chunmin Huang, Min Gao, Xiaomin Wang, Chao Liu, Wenqi Wu, Wenbin An, Yang Wan, Aoli Zhang, Yingchi Zhang, Weiping Yuan, Xiaofan Zhu   +13 more
doaj   +1 more source