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. 2019 Jul 29;9:10966. doi: 10.1038/s41598-019-47439-3

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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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Representative results of Sanger sequencing, MSI and immunohistochemical analysis of MLH1 expression of a germline MLH1 V384D mutant case. (a) Sanger sequencing of MLH1 V384D for tumor and matched normal revealed that it is germline heterozygous variant. (b) MSI profiles with five Bethesda markers in the same case demonstrated MSS. (c) Representative cases with focal loss of MLH1 expression in a mutant case and intact MLH1 expression in a wild-type case. Abbreviations: T = tumor tissue; N = normal tissue.