Screening Practices for Breast and Nonbreast Cancers in High-Risk Mutation Carriers

Women with breast cancer often undergo genetic testing and may have a pathogenic variant associated with multiple cancers. This study examines the current screening practices for breast and nonbreast cancers in mutation carriers.

An institutional retrospective chart review of patients with BRCA1, BRCA2, ATM, CHEK2, BARD1, BRIP1, PALB2, and TP53 mutations were identified. Adherence to recommended screening based on National Comprehensive Cancer Network guidelines was analyzed.

Six hundred sixty-two patients met inclusion criteria: 220 patients with BRCA1, 256 patients with BRCA2, 58 patients with PALB2, 51 patients with ATM, 48 patients with CHEK2, 14 patients with BRIP1, 10 patients with BARD1, and 5 patients with TP53. Overall, 214 (46%) of eligible patients completed recommended breast imaging. Of 106 patients eligible for pancreatic cancer screening, 20 (19%) received a magnetic resonance cholangiopancreatography and 16 (15%) received an endoscopic ultrasound. On multivariable analysis, age was associated with improved breast imaging adherence: patients in age groups 40-55 (adjusted odds ratio 2.05, 95% confidence interval 1.18-3.55) and age 56-70 (adjusted odds ratio 2.16, 95% confidence interval 1.18-3.95, P = 0.012) had better adherence than younger patients.

Increases in genetic testing and updates to National Comprehensive Cancer Network guidelines provide an opportunity for improved cancer screening. While recommended breast cancer screenings are being completed at higher rates, there is a need for clear protocols in this high-risk population.