Keywords:
Breast, Mammography, MR, Ultrasound, Screening, Diagnostic procedure, Outcomes analysis, Cancer, Genetic defects
Authors:
A. Gaudino1, G. Romanucci2, E. Baldan1, S. Zovato1, F. Caumo1; 1Padua/IT, 2Verona/IT
DOI:
10.1594/ecr2018/C-1421
Aims and objectives
Lifetime risk of developing breast cancer in women with family history of cancer is usually assessed by suitable risk models considering multiple risk factors,
and applied with the aid of different software programs (for instance BRCAPRO,
BOADICEA,
IBIS,
etc.).
Risk models take into account woman’s age and family history of breast or ovarian cancer,
and some of them consider also reproductive history and ethnicity [1].
In our Institution,
risk assessment is performed by genetic counselling aiming to select women to be referred for genetic test.
Women with proven BRCA1 or BRCA2 mutations enter in a surveillance program including annual mammography,
ultrasound and magnetic resonance (FFDM + US + MRI).
BRCA1/2 carriers have 3% breast cancer risk increase before the age of 30 years,
and an overall lifetime risk increase between 50% and 80% by the age of 70 years [2].
Moreover,
risk of ovarian cancer is 36-64% and 10–27% for BRCA 1 and BRCA 2 carriers,
respectively [3].
Several studies [4] have demonstrated significantly improved sensitivity of MRI when added to mammography.
A meta-analysis of 11 studies found a sensitivity of 77% [95% confidence interval (CI) 70% to 84%] for MRI alone and 94% (95% CI 90% to 97%) when combined with mammography,
compared with 39% (95% CI 37% to 41%) for mammography alone [5].
A major weakness regarding breast screening with MRI,
besides limited availability and high costs,
is that specificity is lower than generally accepted specificity in mammography screening.
Published data report specificities ranging between 81% and 95%,
lower than mammography screening specificity [6].
The purpose of this study is to examine the outcomes of an institutional breast surveillance program of BRCA1 and BRCA2 women.