Correction to: Genet Med advance online publication, 9 November 2017; https://doi.org/10.1038/gim.2017.185

The abstract to this article contained errors in the Results and Conclusions section. The corrected sections are shown below:

Results: We observed 67 CRCs (mean age at diagnosis = 50.2 (SD = 13.8) years) among 364 first- and second-degree relatives from 41 POLE families, and 6 CRCs (mean age at diagnosis = 39.7 (SD = 6.83) years) among 69 relatives from 9 POLD1 families. We estimated risks of CRC up to the age of 70 years (95% confidence interval) for males and females, respectively, to be 28% (95% CI, 10–42%) and 21% (95% CI, 7–33%) for POLE mutation carriers and 90% (95% CI, 33–99%) and 82% (95% CI, 26–99%) for POLD1 mutation carriers.

Conclusion

CRC risks for POLE mutation carriers are sufficiently high to warrant consideration of colonoscopy screening and implementation of management guidelines recommended for MSH6 mutation carriers in cases of Lynch syndrome. Refinement of estimates of CRC risk for POLD1 carriers is needed; however, clinical management recommendations could follow those made for POLE carriers.

In addition, the first sentence of the fifth paragraph of the Discussion section (page 5) is incorrect. The sentence should have read as follows:

In summary, the increased CRC risks for all carriers of a POLE pathogenic or likely pathogenic exonuclease domain variant warrant consideration of annual colonoscopy screening and clinical management guidelines currently recommended for people with Lynch syndrome, especially MSH6 mutation carriers.