| Title: |
Spatial Distribution of Private Gene Mutations in Clear Cell Renal Cell Carcinoma |
| Authors: |
Moore, Ariane L; Batavia, Aashil A; Kuipers, Jack; Singer, Jochen; Burcklen, Elodie; Schraml, Peter; Beisel, Christian; Moch, Holger; Beerenwinkel, Niko |
| Source: |
Moore, Ariane L; Batavia, Aashil A; Kuipers, Jack; Singer, Jochen; Burcklen, Elodie; Schraml, Peter; Beisel, Christian; Moch, Holger; Beerenwinkel, Niko (2021). Spatial Distribution of Private Gene Mutations in Clear Cell Renal Cell Carcinoma. Cancers, 13(9):18. |
| Publisher Information: |
MDPI Publishing |
| Publication Year: |
2021 |
| Collection: |
University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| Subject Terms: |
Institute of Pathology and Molecular Pathology; 610 Medicine & health |
| Description: |
Intra-tumour heterogeneity is the molecular hallmark of renal cancer, and the molecular tumour composition determines the treatment outcome of renal cancer patients. In renal cancer tumourigenesis, in general, different tumour clones evolve over time. We analysed intra-tumour heterogeneity and subclonal mutation patterns in 178 tumour samples obtained from 89 clear cell renal cell carcinoma patients. In an initial discovery phase, whole-exome and transcriptome sequencing data from paired tumour biopsies from 16 ccRCC patients were used to design a gene panel for follow-up analysis. In this second phase, 826 selected genes were targeted at deep coverage in an extended cohort of 89 patients for a detailed analysis of tumour heterogeneity. On average, we found 22 mutations per patient. Pairwise comparison of the two biopsies from the same tumour revealed that on average, 62% of the mutations in a patient were detected in one of the two samples. In addition to commonly mutated genes (VHL, PBRM1, SETD2 and BAP1),frequent subclonal mutations with low variant allele frequency ( |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
2072-6694 |
| Relation: |
https://www.zora.uzh.ch/id/eprint/203642/1/Moore_cancers_2021.pdf; info:pmid/33946379; urn:issn:2072-6694 |
| DOI: |
10.3390/cancers13092163 |
| Availability: |
https://www.zora.uzh.ch/id/eprint/203642/; https://www.zora.uzh.ch/id/eprint/203642/1/Moore_cancers_2021.pdf; https://doi.org/10.3390/cancers13092163 |
| Rights: |
info:eu-repo/semantics/openAccess ; Creative Commons: Attribution 4.0 International (CC BY 4.0) ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.E017B1CE |
| Database: |
BASE |