Reviewer response for version 1
- Apart from few typo errors, the manuscript is well written and informative.
- There are few too strong statements, e.g., "The disease also predisposes individuals to development of skin cancer and it is estimated that almost all affected members develop cancers in the third or fourth decade of life". 
Perhaps authors can insert a reference (s) that supports this statement.
- Fig. 1. needs some corrections. 
Please insert (a) to refer to the upper limb, thorax and abdomen (not hands and thoracic region). 
b. should refer to legs and feet.
- Is the mentioned "our internal cohort of 122 exomes" published or available online? 
Furthermore, they may mention some of the weaknesses of the Nextera platform, such as coverage bias.
- In the discussion sections, authors may mention the clinical relevance of their finding.
Structure
Strength
Weakness
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