Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence

• Published in: Breast cancer research and treatment 2009-12, Vol.118 (3), p.539-546
• Main Authors: Shah, P, Rosen, M, Stopfer, J, Siegfried, J, Kaltman, R, Mason, B, Armstrong, K, Nathanson, K. L, Schnall, M, Domchek, S. M
• Format: Article
• Language: English
• Subjects: Adult; Breast cancer; Breast Neoplasms - epidemiology; Breast Neoplasms - genetics; Breast Neoplasms - prevention & control; Cancer research; Cancer therapies; Clinical Trial; Clinical trials; Female; Genes; Genes, BRCA1; Genes, BRCA2; Genetic Predisposition to Disease; Heterozygote; Humans; Incidence; Magnetic Resonance Imaging; Mammography; Mass Screening - methods; Medicine; Medicine & Public Health; Middle Aged; Mutation; NMR; Nuclear magnetic resonance; Oncology; Ovariectomy; Reproductive system; Risk factors; Surgery
• ISSN: 0167-6806; 1573-7217
• DOI: 10.1007/s10549-009-0475-1

Annual MRI screening is recommended as an adjunct to mammography for BRCA1 and BRCA2 mutation carriers. Prophylactic oophorectomy has been shown to decrease breast cancer risk in BRCA1/2 mutation carriers. Here, we aimed to examine the combined effects of MRI and oophorectomy. For this purpose, 93 BRCA1/2 mutation carriers were screened with yearly mammograms and yearly MRI scans. Study endpoints were defined as date of breast cancer diagnosis, date of prophylactic mastectomy, or date of most recent contact. Of 93 women, with a median age of 47, 80 (86%) had prophylactic oophorectomy. Fifty-one women (55%) had BRCA1 mutations. A total of 283 MRI scans were performed. Eleven breast cancers (9 invasive, 2 ductal carcinoma in situ) were detected in 93 women (12%) with a median follow-up of 3.2 years (incidence 40 per 1,000 person-years). Six cancers were first detected on MRI, three were first detected by mammogram, and two were “interval cancers.” All breast cancers occurred in BRCA1 mutation carriers (incidence 67 per 1,000 person-years). Apart from BRCA1 vs. BRCA2 mutation status, there were no other significant predictors of breast cancer incidence. Most invasive breast cancers were estrogen receptor negative (7 of 9) and lymph node negative (7 of 9). There have been no systemic recurrences with a median follow-up of 19 months after cancer diagnosis. Finally, it was concluded that all breast cancers occurred in BRCA1 mutation carriers, in most cases despite oophorectomy. These data suggest that surveillance and prevention strategies may have different outcomes in BRCA1 and BRCA2 mutation carriers.