The role of homologous recombination repair in the formation of chromosome aberrations

2004 ◽  
Vol 104 (1-4) ◽  
pp. 21-27 ◽  
Author(s):  
C.S. Griffin ◽  
J. Thacker
Toxicology ◽  
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Vol 440 ◽  
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Heng-Dao Lin ◽  
Fang-Zong Wang ◽  
Chia-Yun Lee ◽  
Chung-Yi Nien ◽  
Yi-Kuan Tseng ◽  
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2006 ◽  
Vol 72 (2) ◽  
pp. 166-175 ◽  
Author(s):  
Michele Cummings ◽  
Karen Higginbottom ◽  
Claire J. McGurk ◽  
Oscar Gee-Wang Wong ◽  
Beate Köberle ◽  
...  

Cancer ◽  
2017 ◽  
Vol 123 (11) ◽  
pp. 1912-1924 ◽  
Author(s):  
Kalen J. Rimar ◽  
Phuoc T. Tran ◽  
Richard S. Matulewicz ◽  
Maha Hussain ◽  
Joshua J. Meeks

2021 ◽  
Vol 11 (4) ◽  
pp. 245
Author(s):  
Laura Cortesi ◽  
Claudia Piombino ◽  
Angela Toss

The homologous recombination repair (HRR) pathway repairs double-strand DNA breaks, mostly by BRCA1 and BRCA2, although other proteins such as ATM, CHEK2, and PALB2 are also involved. BRCA1/2 germline mutations are targeted by PARP inhibitors. The aim of this commentary is to explore whether germline mutations in HRR-related genes other than BRCA1/2 have to be considered as prognostic factors or predictive to therapies by discussing the results of two articles published in December 2020. The TBCRC 048 trial published by Tung et al. showed an impressive objective response rate to olaparib in metastatic breast cancer patients with germline PALB2 mutation compared to germline ATM and CHEK2 mutation carriers. Additionally, Yadav et al. observed a significantly longer overall survival in pancreatic adenocarcinoma patients with germline HRR mutations compared to non-carriers. In our opinion, assuming that PALB2 is a high-penetrant gene with a key role in the HRR system, PALB2 mutations are predictive factors for response to treatment. Moreover, germline mutations in the ATM gene provide a better outcome in pancreatic adenocarcinoma, being more often associated to wild-type KRAS. In conclusion, sequencing of HRR-related genes other than BRCA1/2 should be routinely offered as part of a biological characterization of pancreatic and breast cancers.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Thibaut S. Matis ◽  
Nadia Zayed ◽  
Bouchra Labraki ◽  
Manon de Ladurantaye ◽  
Théophane A. Matis ◽  
...  

AbstractIt was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits in tumor DNA from familial BC cases. No candidates genes were associated with HRD in 38 probands previously tested negative with gene panels. We conclude it is unlikely that unknown HRD-associated genes explain a large fraction of unsolved familial BC.


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