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. 2020 Aug 11;10:13518. doi: 10.1038/s41598-020-70449-5

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Identified PVs compared to age of RC diagnosis, and histology of RC. (A) Statistical comparison of PVs in all genes, RC-specific genes, non-RC and DDRR genes in younger individuals (< 48) versus older individuals (≥ 48). N = 485, these cases were tested for all 49 genes; all cases with Wilms tumor were removed. The results were non-significant (p > 0.05) using two-sided Fisher’s exact tests. (B) Counts of PVs by RC histology: clear cell (blue bar) and renal cell (orange bar) carcinoma in the study cohort. The' renal cell' subtype, is likely clear cell, but this cannot be confirmed. (C) Counts of PVs by all RC histology observed in the study cohort. DDRR genes (maroon bars), other-cancer associated genes (yellow bars), RC-specific genes (blue bars). The total number of individuals with a PV and percent PVs per gene category is shown above the bar. (B,C) Includes counts from both homozygous and heterozygous carriers of MUTYH, and carriers of a FH variant that is currently considered to be pathogenic only in the compound heterozygous or homozygous state.