Impact of updated NCCN guidelines on clinical management and risk communication for CHEK2 p.I157T carriers in breast cancer.

CHEK2 p.I157T missense variant, associated with a lower breast cancer risk than CHEK2 loss-of-function variants.

In 2023, the NCCN updated its recommendations for managing breast cancer risk in carriers of the CHEK2 p.I157T variant, advising de-escalation of enhanced screening when this variant is the only risk factor. The change reflects evidence that some missense variants confer lower risk than CHEK2 loss-of-function variants, which is particularly well established for p.I157T. The authors surveyed healthcare providers involved in hereditary cancer management to assess their understanding of the update and how they communicate de-escalated management to patients. A retrospective records review was conducted to approximate the proportion of patients affected by these recommendations. The stated aim is to identify the determinants of provider recommendations and to inform communication best practices when new evidence leads to relaxed surveillance.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The topic is important and rarely addressed: announcing relaxed surveillance is harder than announcing intensified surveillance, and a CHEK2 p.I157T carrier told for years that their risk was high does not take de-escalation well. The article frames the problem well, but the available abstract does not yet report quantitative results, which limits what can be drawn from it today. Mainly worth keeping as an operational reminder: plan a recontact pathway for carriers when a recommendation changes.

Analysis by Dr Thibaut Benquey