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. 2019 Nov 8;9:16359. doi: 10.1038/s41598-019-52617-4

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© The Author(s) 2019

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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Mutation allele frequency and copy-number variation of PTCH1 in breast cancer patients. (A) Comparison across 44 breast cancer samples by mutation allele frequency and copy-number variations (CNVs). ERBB2 had a high CNV rate but low mutant rate, whereas PTCH1 had a high mutation rate but an extremely low CNV rate in our study. (B) The upper graph shows the mutation frequencies of the top 5 mutation sites in PTCH1, including c.3907C > T, c.3583A > T, C.3538C > T, c.158C > T, and c.154C > T. Each dot represents an individual patient with a mutated gene. The mutation frequency was the product of allele frequency (AF) and read depth (DP). c.3583A > T had the highest mutation frequency and more patient number. The lower table shows detailed information. The mutation frequency is presented as median (range) and mean ± standard deviation. PTCH1 mutation sites (Alt) were compared with the reference genome (Ref). The biological function and patient number of each mutated site in the present study and in the TCGA database are also listed.