Review for 10.1186/s12876-021-01646-3 (2021)

Reviewer’s report
Title: 
Constitutional mismatch repair deficiency in childhood colorectal cancer
harboring a de novo variant in the MSH6 gene: A Case report
Version: 
0 
Date: 
15 Dec 2020
Reviewer's report:
Hizuka et al. present a brief report about a Constitutional mismatch repair
deficiency with childhood colorectal cancer harboring a novel de novo variant in
the MSH6 gene. Please, find below some suggested improvements for this paper:
1) Include more details about the genetic testing.
2) Was MSH2 also lost?
3) Describe if there is any relevant phenotype for the mother and sister also
carrying one of the MSH6 variants.
4) Please, clarify the sentence in the Discussion and conclusions section "The
patient has the same rare variant as her father, indicating that she is related to her
parents."
5) The sentence "In contrast, which shows no remarkable clinical
manifestiations,..." is controversial. It is suggested to be eliminated or modified
since Lynch syndrome has indeed clinical manifestations.
6) The report has lots of clinical details (the authors are clinicians) but has few
molecular details. Increasing them could add more quality to this article.
7) A figure about the genetic testing could be advised instead one of the current
figures.
8) The English language could be improved.
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Is the study design appropriate to answer the research question (including the use
of appropriate controls), and are the conclusions supported by the evidence
presented?
Yes
Are the methods sufficiently described to allow the study to be repeated?
Yes
Is the use of statistics and treatment of uncertainties appropriate?
Yes
Is the presentation of the work clear?
Yes
Are the images in this manuscript (including electrophoretic gels and blots) free
from apparent manipulation?
Yes