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: 
02 Dec 2020
Reviewer's report:
The authors present a case of CMMRD caused by compound heterozygous
mutations in the MSH6 gene. One of these mutations appears to have occurred
de novo. Publication of this case report would help in raising awareness for this
possible mechanism when considering CMMRD as a diagnosis. I do have some
concerns however:
1) Please describe in more detail how you have excluded non-paternity (which
rare variant was found in both the daughter and her father? What is the
frequency of this variant in the general population?)
2) I think it would be beneficial to ask a native speaker to edit the text. There are
grammatical errors and some text could be shortened without losing information.
3) The first line of the abstract is grammatically incorrect and should be
rewritten. Furthermore the abstract could be shorter and should only mention the
clinical phenotype and less details on the clinical course. The latter is not very
relevant for the message of the manuscript. 
4) Please provide more details about the family history, a pedigree would be
helpful.
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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?
No
Are the methods sufficiently described to allow the study to be repeated?
No
Is the use of statistics and treatment of uncertainties appropriate?
Yes
Is the presentation of the work clear?
No
Are the images in this manuscript (including electrophoretic gels and blots) free
from apparent manipulation?
Yes