Skip to main content

Table 3 POLE and POLD1 ED-specific ACMG/AMP recommendations. In blue, population data; in green, segregation and phenotypic data; in grey, variant nature, location and in silico predictive data; and in yellow, functional data. In orange italics, criteria combinations that are not allowed or criteria that need modification when co-used with another one

From: Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

  1. Tumor mutational signature analysis may be performed with any informatic tool available. The herein proposed recommendations have been tested with the results obtained with the web-based tool Signal (https://signal.mutationalsignatures.com/): For POLE variants the COSMIC v.3 signatures included in Signal were analyzed, which include, among others, SBS10a, 10b, 28, 14 and 20; for POLD1 variants the Cancer Reference Signatures (CRS) included in Signal were analyzed, which include, among others, SBS10a, 10d, 14 and 20. In any case, no selection of the cancer type should be performed
Back to article page

Genome Medicine

ISSN: 1756-994X

Contact us