BACKGROUND

While pathogenic sequence variants (PSVs) clearly confer an increased risk for invasive breast cancer, the extent to which these mutant alleles increase DCIS risk is less clear.

OBJECTIVE

To assess the rate of detection over a 5-year period, and MRI imaging features of pure noncalcified DCIS in a cohort of Israeli PSV carriers attending a high-risk clinic from 2015 to 2020.

MATERIALS AND METHODS

All female PSV-carriers followed at the Meirav High-risk clinic from 2015 to 2020 were eligible if they underwent semiannual breast imaging (MRI/mammography) and MRI-guided biopsy-proven pure DCIS. Clinical data, pathology information, and imaging characteristics were retrieved from the computerized archiving system.

RESULTS

18/121 (15.2%) participating PSV carriers and 8/81 (10.1%) PSV-carriers who underwent MRI-guided biopsy were diagnosed with DCIS. The median age of carriers and carriers was 49.8 years and 60.6 years, respectively ( = 0.55). Negative estrogen-receptor tumors were diagnosed in 13/18 (72%) and 2/8 (25%) PSV carriers ( < 0.05). Thirteen (13/18-72%) carriers had intermediate to high-grade or high-grade DCIS compared with 4/8 (50%) of carriers ( = 0.03). Over the 5-year study period, 29/1100 (2.6%) PSV carriers were diagnosed with DCIS seen on MRI only.

CONCLUSION

MRI-detected noncalcified DCIS is more frequent in PSV carriers compared with carriers, unlike the predominance in mammography-detected calcified DCIS. -related DCIS is diagnosed earlier, more likely to be estrogen receptor-negative and of higher grade compared with -related DCIS. Future prospective studies should validate these results and assess the actual impact they might have on clinical management of PSV carriers.