Breast Cancer Screening in Women with a Familial or Genetic Predisposition: the role of MRI

Women with a strong family history of breast and/or ovarian cancer combined with young ages at diagnosis of affected family members have an increased risk of these types of cancer. In 1994 and 1995 respectively, the BRCA1 and BRCA2 genes were identified. A germline mutation in one of these genes is associated with very high risks of early onset breast and ovarian cancer. Current options for BRCA1/2 mutation carriers to reduce their risk of breast cancer or death by breast cancer include prophylactic mastectomy, prophylactic salpingo-oophorectomy, chemoprevention and screening. Screening for breast cancer is also offered to women with a familial predisposition, but without a proven BRCA1/2 mutation. Several studies have investigated the efficacy of mammographic screening, sometimes in combination with clinical breast examination (CBE)) in high-risk groups of women. However, the efficacy of mammography screening has never been clearly demonstrated. Sensitivity of mammography was low this group of women in comparison with post-menopausal women screened in population based studies, most likely because of the young screening age of and consequently frequent a high density of the breast tissue. MRI appeared to be a sensitive method for detection of breast cancer in a diagnostic setting. For this reason, in the late nineties several breast cancer screening studies comparing the value of MRI and mammography were set up in women with a genetic susceptibility. Results of pilot and preliminary studies showed in all of them a very high sensitivity of MRI, while sensitivity of mammography was never higher than 50%. Recently, the first results of four large prospective studies were published, among which the Dutch national MRISC study. In this thesis, the short-term results of the MRISC study are described. Two of the main objectives of the MRISC study are addressed in this thesis: 1. Assessment of the efficacy of screening in diagnosing early-stage breast cancer in women with a familial or genetic predisposition. 2. Assessment of the value of MRI in this screening scheme compared to mammography.

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