BACKGROUND

NCCN Guidelines recommend screening young women with an increased breast cancer risk (>20 ​% lifetime risk). We sought to evaluate our institutional rates of high-risk screening in young breast cancer patients prior to their diagnoses."

METHODS

A single-institution retrospective review (2013-2018) was performed investigating risk scores (Tyrer-Cuzick model) and characteristics of breast cancer patients (age <40 ​y) prior to diagnosis.

RESULTS

92 breast cancer patients age <40 ​y were identified (average age 34.5). Only 3.3 ​% (n ​= ​3) underwent appropriate screening, despite 35.8 ​% meeting high-risk criteria. Nearly all patients underwent genetic testing (98.9 ​%) with pathogenic mutations identified in 36.5 ​%, including 15.3 ​% with BRCA1/2 mutations.

CONCLUSIONS

This analysis highlights a significant discrepancy between those meeting criteria for high-risk screening and those who underwent appropriate screening. We identified that this cohort carries significant genetic burden. Future analysis should investigate these findings on a broader scale and strategies to improve screening.