[Correspondence] Sarcoma and germ-line DICER1 mutations – Authors’ reply

We thank de Kock and Foulkes for their letter and compelling summary table of DICER1 mutations linked to sarcomas. For population-based studies such as ours,1 statistically robust methods are required to identify genes enriched in pathogenic variation.2,3 The principles of controls, replication sets, multiple test correction, and independent sources of experimental evidence, should be regarded as essential evidence for causality. Such an approach was the basis for reporting enrichment of pathogenic variants in ATM, ATR, BRCA2, and ERCC2 in our study.

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