Cancer genetics articles within Nature Communications

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  • Article
    | Open Access

    There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.

    • Constance H. Li
    • , Stephenie D. Prokopec
    •  & Christian von Mering

  • Article
    | Open Access

    Genetic variation predisposes to disease via monogenic and polygenic risk variants. Here, the authors assess the interplay between these types of variation on disease penetrance in 80,928 individuals. In carriers of monogenic variants, they show that disease risk is a gradient influenced by polygenic background.

    • Akl C. Fahed
    • , Minxian Wang
    •  & Amit V. Khera

  • Article
    | Open Access

    Genes that modulate the cytoskeleton have been associated with increased cell proliferation and migration. Here, the authors show that AVIL, an actin regulatory protein, is overexpressed in glioblastomas and mediates oncogenic effects through regulation of FOXM1 stability and LIN28B expression.

    • Zhongqiu Xie
    • , Pawel Ł. Janczyk
    •  & Hui Li

  • Article
    | Open Access

    In cancer many gene variants may contribute to disease etiology, but the impact of a given gene variant may have varied effect size. Here, the authors analyse summary statistics of genome-wide association studies from fourteen cancers, and show the utility of polygenic risk scores may vary depending on cancer type.

    • Yan Dora Zhang
    • , Amber N. Hurson
    •  & Montserrat Garcia-Closas

  • Comment
    | Open Access

    The timing of cancer metastasis has implications for treatment and prevention. Traditional forward-time views of metastasis assume it occurs late during evolution. However, looking backward in time reveals metastasis often occurs prior to clinical detection of primary tumors.

    • Zheng Hu
    •  & Christina Curtis

  • Article
    | Open Access

    Drug synergies impact the efficacy of combination therapies but are difficult to identify. Here Narayan et al. describe the drug atlas, a method to predict effective drug combinations from common exclusive drug effects providing a resource for exploring and understanding effective drug combinations.

    • Ravi S. Narayan
    • , Piet Molenaar
    •  & Bart A. Westerman

  • Article
    | Open Access

    The shattering of chromosomes is a dramatic early event in tumourigenesis and is termed chromothripsis. Here, the authors examine chromothripsis across 28 tumour types and show that 49% of cancers exhibit features of chromothripsis.

    • Natalia Voronina
    • , John K. L. Wong
    •  & Aurélie Ernst

  • Article
    | Open Access

    Most testicular germ-cell tumours are exquisitely sensitive to platinum-based chemotherapies, but little is known about why 10% are resistant. Here, the authors explore the potential underlying mechanisms by probing the genomic landscape of platinum-resistant disease.

    • Chey Loveday
    • , Kevin Litchfield
    •  & Clare Turnbull

  • Article
    | Open Access

    The role of long non-coding RNAs (lncRNAs) in metastatic colorectal cancer (mCRC) and treatment resistance is unclear. Here, the authors use transcriptome sequencing of matched normal, primary, and metastatic CRC tissues to discover and validate that lncRNA RAMS11 promotes metastasis and resistance to topoisomerase inhibitors in mCRC.

    • Jessica M. Silva-Fisher
    • , Ha X. Dang
    •  & Christopher A. Maher

  • Article
    | Open Access

    The role of non-coding somatic mutations in ovarian cancer is unclear. Here, the authors integrate genomic and epigenomic data from patient samples to show that these mutations frequently converge on the PAX8 transcriptional network.

    • Rosario I. Corona
    • , Ji-Heui Seo
    •  & Kate Lawrenson

  • Article
    | Open Access

    The genetics of uveal melanoma has mainly been studied in primary tumours. In this study, the authors perform whole genome sequencing as well as immune cell profiling of biopsy samples obtained from metastatic uveal melanoma patients, providing an updated genomic landscape of these advanced lesions.

    • Joakim Karlsson
    • , Lisa M. Nilsson
    •  & Jonas A. Nilsson

  • Article
    | Open Access

    Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.

    • Deepak N. Subramanian
    • , Magnus Zethoven
    •  & Ian G. Campbell

  • Article
    | Open Access

    Copy number alterations (CNAs) can drive tumor progression in cancer by altering gene expression levels, but transcriptional adaption can skew CNA impact. Here, the authors present transcriptional adaptation to CNA (TACNA) profiling; a tool to extract the transcriptional effect of CNAs from expression data without requiring paired CNA profiles.

    • Arkajyoti Bhattacharya
    • , Rico D. Bense
    •  & Rudolf S. N. Fehrmann

  • Article
    | Open Access

    Uveal melanoma is highly metastatic and unresponsive to checkpoint immunotherapy. Here, the authors present single-cell transcriptomics of 59,915 cells in 8 primary and 3 metastatic samples, highlighting the diversity of the tumour microenvironment.

    • Michael A. Durante
    • , Daniel A. Rodriguez
    •  & J. William Harbour

  • Article
    | Open Access

    FOXA1 pioneer transcription factor is recurrently mutated in primary and metastatic prostate tumors. Here, authors identify a set of six cis-regulatory elements in the FOXA1 regulatory plexus harboring somatic SNVs in primary prostate tumors and characterize their role in regulating FOXA1 expression and prostate cancer cell growth.

    • Stanley Zhou
    • , James R. Hawley
    •  & Mathieu Lupien

  • Article
    | Open Access

    Myelofibrosis is a myeloproliferative neoplasm. Here, the authors show the clonal evolution of myelofibrosis during JAK inhibitor therapy, revealing how the treatment results in an increase in clonal complexity and a gain of RAS pathway mutations.

    • Elena Mylonas
    • , Kenichi Yoshida
    •  & Frederik Damm

  • Article
    | Open Access

    The authors report a co-occurrence of the U2AF1 S34F splicing factor mutation and ROS1 translocations in lung adenocarcinomas and profile effects of S34F on transcriptome-wide RNA binding. They further show that U2AF1 S34F enhances invasive potential and alters splicing of ROS1 fusion transcripts

    • Mohammad S. Esfahani
    • , Luke J. Lee
    •  & Maximilian Diehn

  • Article
    | Open Access

    Pre-malignant cells harbouring oncogenic mutations can populate and spread throughout a tissue. Here, using a rainbow mouse system, the authors explore how clonal expansion in the mouse intestine might explain high levels of intra-tumoural heterogeneity observed in the disease.

    • Peter G. Boone
    • , Lauren K. Rochelle
    •  & Joshua C. Snyder

  • Article
    | Open Access

    There is disproportionally high cancer prevalence in males. Here, the authors analyse the tumour suppressor p53 in sporadic cancers, highlighting a higher incidence of its mutation in males. Males are further disadvantaged by a failure to shield against the expression of damaged X-linked genes in p53-networks. These factors likely contribute to sex-disparity.

    • Sue Haupt
    • , Franco Caramia
    •  & Ygal Haupt

  • Article
    | Open Access

    Interval cancer patients are more likely to carry rare gene mutations than screen-detected breast cancer patients. Here, the authors report that interval cancer patients are more likely cancer survivors and are at a greater risk of developing other non-breast tumors.

    • Felix Grassmann
    • , Wei He
    •  & Kamila Czene

  • Article
    | Open Access

    CYLD cutaneous syndrome (also known as Brooke-Spiegler syndrome) is characterised by germline mutations in the tumor suppressor CYLD. Here, the authors highlight recurrent mutations in DNMT3A and BCOR, indicating a role for epigenetic dysregulation in this rare genetic skin disease.

    • Helen R. Davies
    • , Kirsty Hodgson
    •  & Neil Rajan

  • Article
    | Open Access

    Natural killer/T cell lymphoma (NKTCL) is a rare and aggressive disease. Here, the authors identify recurrent somatic mutations of GNAQ in NKTCL, and model how this mutation contributes to NKTCL pathogenesis.

    • Zhaoming Li
    • , Xudong Zhang
    •  & Mingzhi Zhang

  • Article
    | Open Access

    A common complication of cisplatin-based chemotherapy is hearing loss. Here, Park et al. show that glutathione transferase α4 (GSTA4) contributes to reducing cisplatin toxicity in the inner ear of female mice by removing 4-hydroxynonenal (4-HNE).

    • Hyo-Jin Park
    • , Mi-Jung Kim
    •  & Shinichi Someya

  • Article
    | Open Access

    Interactions between germline variants and somatic mutations is a relatively unexplored topic in cancer. Here, in Ewing sarcoma, the authors show that binding of the oncogenic EWSR1-FLI1 fusion transcription factor to a polymorphic enhancer-like DNA element controls MYBL2, whose high expression correlates with prognosis.

    • Julian Musa
    • , Florencia Cidre-Aranaz
    •  & Thomas G. P. Grünewald

  • Article
    | Open Access

    Cells with ARID1A mutations exhibit mitotic defects, yet show surprisingly low levels of copy number defects. Here, Zhao et al. resolve this issue by showing that ARID1A loss causes defects in telomere cohesion, which selects against gross alterations in copy number.

    • Bo Zhao
    • , Jianhuang Lin
    •  & Rugang Zhang

  • Article
    | Open Access

    In cancer it is assumed that microRNAs recognise and regulate their targets uniformly. Here, the authors show that in gastrointestinal cancers methylation of microRNAs may impact their stability, and that levels of microRNA methylation are distinct in pancreatic cancer patients compared to healthy controls with potential diagnostic implications.

    • Masamitsu Konno
    • , Jun Koseki
    •  & Hideshi Ishii

  • Review Article
    | Open Access

    In pancreatic cancer, the epigenomic landscape can strongly impact the disease phenotype. Here, the authors discuss recent advances in our understanding of pancreatic cancer epigenomics, and how this knowledge can integrate with precision medicine approaches in this lethal disease.

    • Gwen Lomberk
    • , Nelson Dusetti
    •  & Raul Urrutia

  • Article
    | Open Access

    Mutations in the Protein Phosphatase PPM1D are oncogenic in certain cancers including diffuse intrinsic pontine glioma (DIPG). Here, the authors show that PPM1D mutations in DIPG induce the silencing of the nicotinic acid phosphoribosyltransferase gene and display synthetic lethality with nicotinamide phosphoribosyltransferase inhibitors.

    • Nathan R. Fons
    • , Ranjini K. Sundaram
    •  & Ranjit S. Bindra

  • Article
    | Open Access

    The Anaphase Promoting Complex adaptor protein Cdh1 tightly controls cell cycle progression to restrain tumorigenesis but the mechanism is not completely known. Here, the authors show that reciprocal inhibition between Cdh1 and the c-Src signaling pathway regulate breast cancer tumorigenesis.

    • Tao Han
    • , Shulong Jiang
    •  & Lixin Wan

  • Article
    | Open Access

    The definition of regulatory landscape at chronic lymphocytic leukaemia (CLL) risk loci is limited. Here, the authors perform an epigenomic characterisation of 42 known risk loci in CLL and normal B cells at different developmental stages and show active chromatin and target genes in the risk loci.

    • Helen E. Speedy
    • , Renée Beekman
    •  & José I. Martín-Subero

  • Article
    | Open Access

    PIK3CA mutations and ARID1A loss co-exist in endometrial neoplasms. Here, the authors show that these co-mutations drive gene expression profiles correlated with differential chromatin accessibility and ARID1A binding in the endometrial epithelium, resulting in partial EMT and myometrial invasion.

    • Mike R. Wilson
    • , Jake J. Reske
    •  & Ronald L. Chandler

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