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Article
Subclonal accumulation of immune escape mechanisms in microsatellite instability-high colorectal cancers
Intratumor heterogeneity (ITH) in microsatellite instability-high (MSI-H) colorectal cancer (CRC) has been poorly studied. We aimed to clarify how the ITH of MSI-H CRCs is generated in cancer evolution and how...
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Article
Open AccessSomatic mutations can induce a noninflamed tumour microenvironment via their original gene functions, despite deriving neoantigens
Identifying biomarkers to predict immune checkpoint inhibitor (ICI) efficacy is warranted. Considering that somatic mutation-derived neoantigens induce strong immune responses, patients with a high tumour muta...
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Article
Open AccessTranscript-targeted analysis reveals isoform alterations and double-hop fusions in breast cancer
Although transcriptome alteration is an essential driver of carcinogenesis, the effects of chromosomal structural alterations on the cancer transcriptome are not yet fully understood. Short-read transcript seq...
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Article
Multi-omic profiling of peritoneal metastases in gastric cancer identifies molecular subtypes and therapeutic vulnerabilities
Peritoneal metastasis, a hallmark of incurable advanced gastric cancer (GC), presently has no curative therapy and its molecular features have not been examined extensively. Here we present a comprehensive mul...
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Article
The PD-1 expression balance between effector and regulatory T cells predicts the clinical efficacy of PD-1 blockade therapies
Immune checkpoint blockade has provided a paradigm shift in cancer therapy, but the success of this approach is very variable; therefore, biomarkers predictive of clinical efficacy are urgently required. Here,...
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Article
Open AccessKRAS mutations in uterine endometrium are associated with gravidity and parity
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Article
Open AccessDetection of circulating sarcoma tumor cells using a microfluidic chip-type cell sorter
Analyses of circulating tumor cells have been shown to be effective for the detection of cancer relapse and prognosis prediction. However, research regarding its utility in sarcoma remains scarce. In this stud...
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Article
Open AccessUterine adenomyosis is an oligoclonal disorder associated with KRAS mutations
Uterine adenomyosis is a benign disorder that often co-occurs with endometriosis and/or leiomyoma, and impairs quality of life. The genomic features of adenomyosis are unknown. Here we apply next-generation se...
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Article
A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination
Although several causal genes of familial myelodysplastic syndromes (MDS) have been identified, the genetic landscape and the molecular pathogenesis are not totally understood. To explore novel driver genes an...
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Article
Open AccessMutant ASXL1 cooperates with BAP1 to promote myeloid leukaemogenesis
ASXL1 mutations occur frequently in myeloid neoplasms and are associated with poor prognosis. However, the mechanisms by which mutant ASXL1 induces leukaemogenesis remain unclear. In this study, we report mutuall...
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Article
Correction: Corrigendum: Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
Nat. Genet. 48, 569–574 (2016); published online 28 March 2016; corrected after print 29 August 2016 In the version of this article initially published, the following statement was not included in the Online M...
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Article
Genomic characterization of primary central nervous system lymphoma
Primary central nervous system lymphoma (PCNSL) is a rare malignancy confined to the central nervous system (CNS), and majority of PCNSL is pathologically classified as diffuse large B-cell lymphoma (DLBCL). W...
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Article
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
Hiroyuki Mano and colleagues report fusions involving DUX4 in 16.4% of Ph-negative adolescent and young adult acute lymphoblastic leukemia (AYA-ALL) cases. Transplantation assays in mice support an oncogenic role...
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Article
Recurrent CDC25C mutations drive malignant transformation in FPD/AML
Familial platelet disorder (FPD) with predisposition to acute myelogenous leukaemia (AML) is characterized by platelet defects with a propensity for the development of haematological malignancies. Its molecula...
