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Article
Open AccessMolecular classification and biomarkers of outcome with immunotherapy in extensive-stage small-cell lung cancer: analyses of the CASPIAN phase 3 study
We explored potential predictive biomarkers of immunotherapy response in patients with extensive-stage small-cell lung cancer (ES-SCLC) treated with durvalumab (D) + tremelimumab (T) + etoposide-platinum (EP),...
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Article
Open AccessIdentifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypes
A 3-biomarker homologous recombination deficiency (HRD) score is a key component of a currently FDA-approved companion diagnostic assay to identify HRD in patients with ovarian cancer using a threshold score o...
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Article
Open AccessLandscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets
DNA repair deficiencies are characteristic of cancer and homologous recombination deficiency (HRD) is the most common. HRD sensitizes tumour cells to PARP inhibitors so it is important to understand the landsc...
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Article
Open AccessCandidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes
Olaparib (Lynparza™) is a PARP inhibitor approved for advanced BRCA-mutated (BRCAm) ovarian cancer. PARP inhibitors may benefit patients whose tumours are dysfunctional in DNA repair mechanisms unrelated to BRCA1...
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Article
Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells
BRCA1 deficiencies cause breast, ovarian, prostate and other cancers, and render tumours hypersensitive to poly(ADP-ribose) polymerase (PARP) inhibitors. To understand the resistance mechanisms, we conducted w...
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Article
Defining actionable mutations for oncology therapeutic development
This Opinion article discusses the challenges in determining which genomic events in tumours are actionable and thus expected to affect treatment response. The authors summarize published classification approa...
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Article
Acquired EGFR C797S mutation mediates resistance to AZD9291 in non–small cell lung cancer harboring EGFR T790M
A mutation conferring resistance to novel irreversible EGFR inhibitors is identified in cell-free plasma DNA from lung cancer patients.
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Chapter and Conference Paper
Comparing Assemblies Using Fragments and Mate-Pairs
Using current technology, large consecutive stretches of DNA (such as whole chromosomes) are usually assembled from short fragments obtained by shotgun sequencing, or from fragments and mate-pairs, if a “doubl...
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Article
A shotgun optical map of the entire Plasmodium falciparum genome
The unicellular parasite Plasmodium falciparum is the cause of human malaria, resulting in 1.7–2.5 million deaths each year1. To develop new means to treat or prevent malaria, the Malaria Genome Consortium was fo...
