Nature communications, 2019-01, Vol.10 (1), p.353-14, Article 353
- Wong, Kim
- van der Weyden, Louise
- Schott, Courtney R
- Foote, Alastair
- Constantino-Casas, Fernando
- Smith, Sionagh
- Dobson, Jane M
- Murchison, Elizabeth P
- Wu, Hong
- Yeh, Iwei
- Fullen, Douglas R
- Joseph, Nancy
- Bastian, Boris C
- Patel, Rajiv M
- Martincorena, Inigo
- Robles-Espinoza, Carla Daniela
- Iyer, Vivek
- Kuijjer, Marieke L
- Arends, Mark J
- Brenn, Thomas
- Harms, Paul W
- Wood, Geoffrey A
- Adams, David J
2019
Details
- Autor(en) / Beteiligte
- Wong, Kim
- van der Weyden, Louise
- Schott, Courtney R
- Foote, Alastair
- Constantino-Casas, Fernando
- Smith, Sionagh
- Dobson, Jane M
- Murchison, Elizabeth P
- Wu, Hong
- Yeh, Iwei
- Fullen, Douglas R
- Joseph, Nancy
- Bastian, Boris C
- Patel, Rajiv M
- Martincorena, Inigo
- Robles-Espinoza, Carla Daniela
- Iyer, Vivek
- Kuijjer, Marieke L
- Arends, Mark J
- Brenn, Thomas
- Harms, Paul W
- Wood, Geoffrey A
- Adams, David J
- Titel
- Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
- Ist Teil von
- Nature communications, 2019-01, Vol.10 (1), p.353-14, Article 353
- Ort / Verlag
- England: Nature Publishing Group
- Erscheinungsjahr
- 2019
- Link zum Volltext
- Quelle
- Alma/SFX Local Collection
- Beschreibungen/Notizen
- Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. We identify a UV mutation signature in a small number of samples, including human cases from the lip and nasal mucosa. A cross-species comparative analysis of recurrent copy number alterations identifies several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggests pervasive intra-tumor heterogeneity. Collectively, these studies suggest a convergence of some genetic changes in mucosal melanomas between species but also distinctly different paths to tumorigenesis.
- Sprache
- Englisch; Norwegisch
- Identifikatoren
- ISSN: 2041-1723eISSN: 2041-1723DOI: 10.1038/s41467-018-08081-1Titel-ID: cdi_doaj_primary_oai_doaj_org_article_4e13d3e9fe6547238116ebda7ade7244
- Format
- –
- Schlagworte
- Animals, BRCA1 protein, BRCA1 Protein - genetics, BRCA1 Protein - metabolism, BRCA2 protein, BRCA2 Protein - genetics, BRCA2 Protein - metabolism, Breast cancer, Cadherins - genetics, Cadherins - metabolism, Carcinogenesis - genetics, Carcinogenesis - metabolism, Carcinogenesis - pathology, Cell Cycle Proteins - genetics, Cell Cycle Proteins - metabolism, Comparative analysis, Copy number, Data processing, DNA Copy Number Variations, Dogs, Gene Expression Regulation, Neoplastic, Germ-Line Mutation, GTP Phosphohydrolases - genetics, GTP Phosphohydrolases - metabolism, Heterogeneity, Horses, Human performance, Humans, MDM2 protein, Melanoma, Melanoma - genetics, Melanoma - metabolism, Melanoma - pathology, Membrane Proteins - genetics, Membrane Proteins - metabolism, Metastases, Microtubule-Associated Proteins - genetics, Microtubule-Associated Proteins - metabolism, Mouth Neoplasms - genetics, Mouth Neoplasms - metabolism, Mouth Neoplasms - pathology, Mucosa, Mucous Membrane - metabolism, Mucous Membrane - pathology, Mutation, Neoplasm Proteins - genetics, Neoplasm Proteins - metabolism, Neoplasm Recurrence, Local, p53 Protein, Protein Serine-Threonine Kinases - genetics, Protein Serine-Threonine Kinases - metabolism, Proto-Oncogene Proteins c-mdm2 - genetics, Proto-Oncogene Proteins c-mdm2 - metabolism, PTEN Phosphohydrolase - genetics, PTEN Phosphohydrolase - metabolism, PTEN protein, Receptor-Like Protein Tyrosine Phosphatases, Class 3 - genetics, Receptor-Like Protein Tyrosine Phosphatases, Class 3 - metabolism, Skin Neoplasms - genetics, Skin Neoplasms - metabolism, Skin Neoplasms - pathology, Species, Species Specificity, Tumor Suppressor Protein p53 - genetics, Tumor Suppressor Protein p53 - metabolism, Tumor Suppressor Proteins - genetics, Tumor Suppressor Proteins - metabolism, Tumorigenesis, Tumors