High risk surveillance MRI may not be necessary in BRCA1/2 mutation carriers over 70 years old

Abstract

Background: The risk of developing breast cancer up to age 80 for women with BRCA1/2 mutations is approximately 69-72%. The risk estimates, however, become labile in the later years of life. Many older BRCA1/2 mutation carriers who have not developed breast cancer continue to undergo high-risk surveillance. We evaluated breast cancers in women age ≥ 70 and identified which modality diagnosed the malignancy.

Methods: Females with BRCA1/2 mutations identified between 1996 and 2022 were included in this single institution retrospective review. The cohort was divided by age at BRCA1/2 diagnosis (30-59, 60-69 & ≥ 70). The number of malignancies and imaging modality which led to the diagnosis were recorded.

Results: There were 316 patients with BRCA1/2 mutations: 266/316 (84.2%) were 30-59 years old at the time of genetic testing, 35/316 (11.1%) were 60-69, and 15/316 (4.7%) were ≥ 70. Median follow-up was 57 months (IQR 21.6-114.6). There were 178 (56.3%) breast malignancies diagnosed; 161/266 (60.5%) age 30-59, 11/35 (31.4%) ages 60-69, and 6/15 (40%) age ≥ 70 (p = 0.002). Of patients with a malignant diagnosis (n = 178), 140/178 (78.7%) had their cancers discovered on either screening or diagnostic mammogram, 30/178 (16.9%) by MRI, 1 /178 (0.6%) on ultrasound, and 1/178 (0.6%) was discovered on surgical pathology. Of the breast cancers diagnosed in patients age ≥ 70, 66.7% (4/6) were found on mammogram.

Conclusions: In women ≥ 70 with BRCA1/2 mutations, mammograms may be sufficient surveillance. Given that a number of older BRCA1/2 carriers may never develop breast cancer, our data supports individualized care and consideration for de-escalated surveillance in those ≥ 70.

Keywords: BRCA1/BRCA2; Breast Cancer; Genetic testing; Invasive Ductal Carcinoma; Mutation; Older.