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Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing
BMC Genomics volume 24, Article number: 388 (2023)
The Original Article was published on 24 April 2023
Correction: BMC Genomics 24, 212 (2023)
https://doi.org/10.1186/s12864-023-09310-8
Following publication of the original article [1], it was reported that supplementary tables 1, 2 and 8 were missing from the published article. Additionally, the incorrect versions of Figs. 1 and 4 were published. The updated figures and supplementary files are included in this Correction and the original article has been updated.
Select pedigrees from the eoRCC patient cohort and enrichment of predicted pathogenic variants in DNA repair genes in the cohort. A-E. Pedigrees of eoRCC patients with variants in: A—POLD1 and POLH; B—POLE; C—ATM; D—RRM2B and BCL2L1; E—OGG1, NEIL3 and UBR5. F. Summary of variants in genes and pathways, identifed in the cohort. In color—number of variants identifed for each gene. For detailed information, see Supplementary tables 1 and 2
Renal tumors carrying polymerase variants showed high TMB, MSS, and no LOH. A. Percent alteration frequency in 897 tumors from TCGA in diferent histological types of RCC: chromophobe (n = 66), ccRCC—clear cell renal cell carcinoma (n = 538), ccRCC (hyper)—hypermutated samples (n = 12), papillary (n = 293). B. TMB and MSS data are presented for Pt #1 (POLD1 V759I, POLH G209V) and Pt #2 (POLE W1624X). C. Tumor and normal Sanger sequencing for variants in Pt #1 (POLD1 V759I, POLH G209V) and Pt #2 (POLE W1624X) showing no LOH. Arrows show variants of interest on sequencing tracks
Reference
Demidova EV, Serebriiskii IG, Vlasenkova R, et al. Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing. BMC Genomics. 2023;24:212. https://doi.org/10.1186/s12864-023-09310-8.
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Supplementary Information
Additional file 1: Supplementary table 1.
List of candidate genes for WES analysis. Supplementary table 2. Annotation of candidate variants identified in the 22 eoRCC patients.
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Demidova, E.V., Serebriiskii, I.G., Vlasenkova, R. et al. Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing. BMC Genomics 24, 388 (2023). https://doi.org/10.1186/s12864-023-09486-z
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DOI: https://doi.org/10.1186/s12864-023-09486-z