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Showing 1–12 of 12 results
Advanced filters: Author: Carla Daniela Robles-Espinoza Clear advanced filters
  • Deleterious germline variants in the MC1Rgene are associated with red hair and freckles, and with an increased risk of developing melanoma. Here, the authors investigate melanoma samples from patients with and without these variants and find that their presence is predictive of a higher overall mutation prevalence.

    • Carla Daniela Robles-Espinoza
    • Nicola D. Roberts
    • David J. Adams
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-7
  • Twelve early-career investigators share their thoughts on the challenges faced by their teams and communities during the past year, and look ahead to new opportunities for 2022.

    • Leila Akkari
    • Stacey D. Finley
    • Meng Michelle Xu
    Reviews
    Nature Cancer
    Volume: 2, P: 1278-1283
  • David Adams, Julia Newton-Bishop, Timothy Bishop, Nicholas Hayward and colleagues identify loss-of-function variants in POT1 in several families with early onset multiple primary melanoma. They further show that these variants disrupt telomere binding by POT1 and are associated with increased telomere length.

    • Carla Daniela Robles-Espinoza
    • Mark Harland
    • David J Adams
    Research
    Nature Genetics
    Volume: 46, P: 478-481
  • Spiradenoma and cylindroma are skin adnexal tumors that can behave aggressively and undergo malignant transformation. Here, the authors genetically assess a cohort of these adnexal tumours, highlighting recurrent ALPK1 mutations and revealing the genomic landscape of these rare tumours.

    • Mamunur Rashid
    • Michiel van der Horst
    • David J. Adams
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-10
  • Most of our current knowledge of melanoma is derived from the study of patients from populations of European descent, for whom public health, sun protection initiatives and screening measures have appreciably decreased disease mortality. Notably, some melanoma subtypes that most commonly develop in other populations are not associated with exposure to ultraviolet (UV) light, suggesting a different disease aetiology. Further study of these subtypes is necessary to understand their risk factors and genomic architecture, and to tailor therapies and public health campaigns to benefit patients of all ethnic groups.

    • Raul Ossio
    • Rodrigo Roldán-Marín
    • Carla Daniela Robles-Espinoza
    Comments & Opinion
    Nature Reviews Cancer
    Volume: 17, P: 393-394
  • Mucosal melanoma is a rare melanoma subtype that is poorly characterised. Here, the authors sequenced human, canine, and equine melanoma samples and performed a cross-species analysis, which revealed candidate driver genes, recurrent copy number alterations in regions syntenic between species, extensive intra-tumour heterogeneity and potential germline predisposing alleles

    • Kim Wong
    • Louise van der Weyden
    • David J. Adams
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14