Genetic testing in young women with breast cancer: results from a Web-based survey

Young women with breast cancer have an increased risk for harboring a BRCA1 or BRCA2 mutation. Frequency of genetic testing and factors associated with testing have not been well described in this population. We evaluated the rate of genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an advocacy group for young women with breast cancer. Items regarding family history and genetic testing were included in a Web-based cross-sectional survey. A total of 701 women were eligible based on a history of breast cancer diagnosed ≤40 years. Mean age at diagnosis was 32.9 years and mean age at survey 35.7 years. About 41% reported a first- or second-degree relative with breast or ovarian cancer. About 24% had undergone genetic testing, and 26% of those tested reported that a mutation was found. By multivariate logistic regression, likelihood of having undergone testing was higher in women who were younger at diagnosis, were more educated, had a first- or second-degree relative with breast or ovarian cancer, had a mastectomy rather than breast conservation, and considered themselves at high risk for a cancer-predisposing mutation. Most women diagnosed with breast cancer ≤40 years do not undergo genetic testing.