ISRA May 2022

Breast Cancer During Pregnancy And Lactation in BRCA Carriers

Miri Sklair 1,2 Miri Sklair-Levy 1,2 Mali Brodsky 1,2 Osnat Halshtok Neiman 1,2 Anat Shalmon 1,2 Michael Gotlieb 1,2 Yael Yagil 1,2 David Samocha 1,2 Eitan Friedman 1,2
1Division of Diagnostic Imaging, Sheba Medical Center, Israel
2The Sackler Faculty of Medicine, Tel Aviv University, Israel

Purpose: Women harboring BRCA1/BRCA2 germline pathogenic sequence variants (PSVs) mutations have a substantially increased lifetime-risk for developing breast cancer, estimated at 70-75%. Approximately 12% of women ≤40 years with breast cancer carry BRCA1/BRCA2-PSVs. While breast cancer surveillance-imaging including MRI and mammography is well established for BRCA PSV-carriers, optimal breast imaging surveillance during pregnancy/breastfeeding is not well established. At our institute, we offer breast exam and breast ultrasound every 3 months for these women. The aim of our study was to assess the utility and yield of this screening protocol.

Methods: Retrospective, IRB approved observational study, evaluating pregnant/breastfeeding BRCA carriers who are being followed up at the Meirav high risk clinic during 2014-2021. Using OpisoftCare software, all BRCA carriers undergoing surveillance, during pregnancy and lactation were identified. Breast imaging examinations, biopsies, number of cancers were retrieved for all patients.

Results: During the study period, 593 breast-ultrasounds were performed in 263 pregnant BRCA-carriers and 409 breast-ultrasounds for 175 breastfeeding BRCA-carriers. Thirty-six biopsies were performed in pregnant women: in 4 (4/263=1.5% - 11% of biopsies) breast cancer was detected (three invasive ductal carcinoma and one invasive lobular carcinoma, three of them triple negative); 2 of 25 biopsies performed in breastfeeding women (2/175=1.1% - 8% of biopsies) were malignant (both invasive ductal carcinoma, one triple negative). Five out of six women with pregnancy-related carcinoma were BRCA1 carriers. Four out of six patients had the lesion detected on screening ultrasound. One patient with a palpable lesion died.

Conclusions: Pregnancy-related carcinoma in PSV carriers is rare. BRCA1 were found to have a higher risk of pregnancy-related carcinoma. Although rates of detection are low, these are high risk and very young patients, who largely benefit from early detection. Based on these preliminary data, imaging surveillance with ultrasound of pregnant/breastfeeding PSV-carriers should be considered and validated in a larger dataset.