Reviewer's report
Title:Desmoid tumors complicating Familial Adenomatous Polyposis: a
meta-analysis of the mutation spectrum of at-risk individuals
Version:2Date:29 January 2015
Reviewer: Heather Hampel
Reviewer's report:
Nice manuscript addressing genotype-phenotype correlations between desmoids
tumors and mutations in the APC gene. First study to normalize the findings by
comparing to the frequency of all mutations in various regions of APC.
Major comment:
Why no mention of codons 1256-1303 throughout the manuscript when the table
appears to show a relative risk of 2.0 for this region that is almost as statistically
significant (if I'm reading the table right) as codons 543-713.
Regarding surveillance for desmoids, at what age would you begin annual
abdominal ultrasound? How would you screen for extra-abdominal desmoids
given the high frequency you found in this meta-analysis?
Minor comment:
I'm not sure if this is just a problem with the upload but there were multiple
instances throughout the manuscript where two words appeared not to have a
space between them (e.g. line 52 "mutationswith" and line 55 "ofAPC" and line
124 "51unique". I stopped keeping track because there were too many. Please
check that this is not occurring in the original.
Tables/Figures are uploaded twice and there are formatting problems (Figure 2, y
axis "Percentage of" is on top of the %es.
Reviewer's report
Title:Desmoid tumors complicating Familial Adenomatous Polyposis: a
meta-analysis of the mutation spectrum of at-risk individuals
Version:2Date:29 January 2015
Reviewer: Heather Hampel
Reviewer's report:
Nice manuscript addressing genotype-phenotype correlations between desmoids
tumors and mutations in the APC gene. First study to normalize the findings by
comparing to the frequency of all mutations in various regions of APC.
Major comment:
Why no mention of codons 1256-1303 throughout the manuscript when the table
appears to show a relative risk of 2.0 for this region that is almost as statistically
significant (if I'm reading the table right) as codons 543-713.
Regarding surveillance for desmoids, at what age would you begin annual
abdominal ultrasound? How would you screen for extra-abdominal desmoids
given the high frequency you found in this meta-analysis?
Minor comment:
I'm not sure if this is just a problem with the upload but there were multiple
instances throughout the manuscript where two words appeared not to have a
space between them (e.g. line 52 "mutationswith" and line 55 "ofAPC" and line
124 "51unique". I stopped keeping track because there were too many. Please
check that this is not occurring in the original.
Tables/Figures are uploaded twice and there are formatting problems (Figure 2, y
axis "Percentage of" is on top of the %es.
Please review this paper.
user
Reviewer's report
Title:Desmoid tumors complicating Familial Adenomatous Polyposis: a
meta-analysis of the mutation spectrum of at-risk individuals
Version:2Date:29 January 2015
Reviewer: Heather Hampel
Reviewer's report:
Nice manuscript addressing genotype-phenotype correlations between desmoids
tumors and mutations in the APC gene. First study to normalize the findings by
comparing to the frequency of all mutations in various regions of APC.
Major comment:
Why no mention of codons 1256-1303 throughout the manuscript when the table
appears to show a relative risk of 2.0 for this region that is almost as statistically
significant (if I'm reading the table right) as codons 543-713.
Regarding surveillance for desmoids, at what age would you begin annual
abdominal ultrasound? How would you screen for extra-abdominal desmoids
given the high frequency you found in this meta-analysis?
Minor comment:
I'm not sure if this is just a problem with the upload but there were multiple
instances throughout the manuscript where two words appeared not to have a
space between them (e.g. line 52 "mutationswith" and line 55 "ofAPC" and line
124 "51unique". I stopped keeping track because there were too many. Please
check that this is not occurring in the original.
Tables/Figures are uploaded twice and there are formatting problems (Figure 2, y
axis "Percentage of" is on top of the %es.
assistant