Cancer genetics articles within Nature Communications

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  • Article |

    Paclitaxel is effective in the treatment of breast cancer but predicting which patients might respond to this drug is of clinical importance. Here, Jiang et al. show that germline mutations in TEKT4, a protein that associates with microtubules, are associated with resistance to paclitaxel therapy.

    • Yi-Zhou Jiang
    • , Ke-Da Yu
    •  & Zhi-Ming Shao

  • Article
    | Open Access

    Bladder cancer is a complex genetic disease and a common cause of death due to malignancy. Here, the authors carry out whole-genome sequencing of 14 bladder cancers to characterize the genomic landscape of the disease and show that mutational burden is associated with tumour progression in these samples.

    • J. -B. Cazier
    • , S. R. Rao
    •  & F. C. Hamdy

  • Article |

    Genomic rearrangements have important functional consequences for cancer. Here, Choi and Meyerson use CRISPR/Cas technology to generate translocations and inversions that are known drivers of lung cancer, and demonstrate the utility of this technology for studying the role of genomic rearrangements in disease.

    • Peter S. Choi
    •  & Matthew Meyerson

  • Article
    | Open Access

    Germline pseudogenes have an important role in human evolution. Here, the authors analyse sequencing data from 660 cancer samples and find evidence for the formation of somatically acquired pseudogenes, a new class of mutation, which may contribute to cancer development.

    • Susanna L. Cooke
    • , Adam Shlien
    •  & Gerrit K.J. Hooijer

  • Article |

    Pulmonary carcinoids account for about 2% of pulmonary neoplasms. Here, the authors carry out gene copy number analysis, genome/exome, and transcriptome sequencing of pulmonary carcinoids and identify frequent mutations in chromatin-remodelling genes that can drive tumorigenesis in these tumours.

    • Lynnette Fernandez-Cuesta
    • , Martin Peifer
    •  & Roman K. Thomas

  • Article |

    Complex genomic alterations segregate melanoma into different molecular subsets, but for most subsets it is unclear whether they drive a distinct clinical behaviour. Here, the authors use gene-expression data from melanoma patients to search for outlier genes that correlate with survival and identify that MTSS1 is associated with metastasis.

    • Kirsten D. Mertz
    • , Gaurav Pathria
    •  & Stephan N. Wagner

  • Article |

    Cutaneous melanoma is an aggressive form of skin cancer. Here, the authors show that mutations in the TERT promoter of 287 primary melanomas are associated with age, Breslow thickness and tumour ulceration and frequently occur at sun-exposed sites.

    • Barbara Heidenreich
    • , Eduardo Nagore
    •  & Rajiv Kumar

  • Article |

    Ovarian cancer is one of the most common cancers in women and has an average 5-year survival of only 43%. Here, Kanchi et al.describe the germline and somatic mutation spectrum in ovarian cancer patients and identify potential risk variants associated with the disease.

    • Krishna L. Kanchi
    • , Kimberly J. Johnson
    •  & Li Ding

  • Article |

    Spitzoid neoplasms constitute a spectrum of melanocytic tumours, characterized by distinct clinical, pathological and genetic features. Here, Wiesner et al. show that kinase fusions represent the majority of oncogenic aberrations in spitzoid neoplasms and may serve as therapeutic targets for metastatic spitzoid melanoma.

    • Thomas Wiesner
    • , Jie He
    •  & Boris C. Bastian

  • Article |

    Insulinomas develop from pancreatic β-cells and secrete insulin, but the underlying genetic defects are largely unknown. In this study, Cao et al. identify recurrent T372R mutations in the transcription factor YY1, and validate this hotspot mutation in 30% of insulinomas.

    • Yanan Cao
    • , Zhibo Gao
    •  & Guang Ning

  • Article |

    Renal cell carcinoma (RCC) accounts for 80–90% of all kidney cancers, but to date, only five genome-wide significant RCC risk loci have been identified. Here, Gudmundsson et al.identify a new RCC susceptibility locus and provide insight into the genetic basis of the disease.

    • Julius Gudmundsson
    • , Patrick Sulem
    •  & Kari Stefansson

  • Article
    | Open Access

    PALB2 is a BRCA1-/BRCA2-interacting protein and heterozygous mutations in PALB2 are associated with hereditary breast cancer predisposition. Here the authors show that human lymphoblastoid cells from heterozygous PALB2mutation carriers display abnormal DNA replication dynamics and DNA damage response.

    • Jenni Nikkilä
    • , Ann Christin Parplys
    •  & Robert Winqvist

  • Article |

    Loss of the tumour suppressor Rb1 alone is thought to be insufficient for tumorigenesis. In this study, Liu et al. demonstrate that cells in which all three Rb1 family members are inactivated can initiate tumour formation, but only if cell survival is ensured by the retention of cell–cell contacts.

    • Yongqing Liu
    • , Ester Sánchez-Tilló
    •  & Douglas C. Dean

  • Article |

    Hodgkin’s lymphoma has a genetic component that is poorly understood. In this study, Frampton et al. perform a genome-wide association study in German patients and combine the results with a previously published UK genome-wide association study to identify susceptibility loci at 3p24.1 and 6q23.3.

    • Matthew Frampton
    • , Miguel Inacio da Silva Filho
    •  & Richard S. Houlston

  • Article
    | Open Access

    FGFR2 gene variation is associated with breast cancer risk but the molecular mechanism is unknown. Fletcher et al. provide a link between FGFR2 signalling and breast cancer susceptibility by demonstrating that FGFR2 signalling activates the ERa transcriptional network, which drives transcription of risk genes.

    • Michael N. C. Fletcher
    • , Mauro A. A. Castro
    •  & Kerstin B. Meyer

  • Article
    | Open Access

    Telomerase reverse-trancriptase promoter mutations have been recently found in human melanomas. Here, Nault et al.identify telomerase reverse-trancriptase promoter mutations as the most frequent somatic genetic alterations in hepatocellular carcinomas and as the first mutation identified in cirrhotic preneoplastic lesions.

    • Jean Charles Nault
    • , Maxime Mallet
    •  & Jessica Zucman-Rossi

  • Article |

    Reactivation of telomerase has been implicated in human tumorigenesis. Here, somatic mutations in the TERT promoter are reported in cancers of the central nervous system, bladder, follicular cell-derived thyroid and melanoma, thus demonstrating that TERTpromoter mutations are a frequent event in human cancer.

    • João Vinagre
    • , Ana Almeida
    •  & Paula Soares

  • Article
    | Open Access

    Cancer-associated mutations in isocitrate dehydrogenase are proposed to impair TET2-dependent DNA demethylation. By comparing the methylomes of IDH-mutant cancers, the authors identify the transcription factor EBF1 as a partner of TET2, suggesting a possible means for targeting TET2 to specific DNA sequences.

    • Paul Guilhamon
    • , Malihe Eskandarpour
    •  & Stephan Beck

  • Article |

    The TMPRSS2/ERG gene fusion is frequently expressed in prostate cancers, however, its clinical significance is unclear. Polsen et al. show that this gene fusion is expressed monoallelically in prostate cancer stem cells, and may influence their self-renewal and maintenance.

    • Euan S. Polson
    • , John L. Lewis
    •  & Norman J. Maitland

  • Article
    | Open Access

    HNF1B is overexpressed in the clear cell subtype and epigenetically silenced in the serous subtype of ovarian cancer. Pearce and colleagues now show that genetic variants in HNF1B are differentially associated with risks of developing these two cancer subtypes, possibly through an epigenetic mechanism.

    • Hui Shen
    • , Brooke L. Fridley
    •  & Celeste Leigh Pearce

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