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INTRODUCTIONMutations in the BRCA (breast cancer) 1 and 2 genes are thought to lead to 5-10% of breast cancers.AIMA qualitative study to explore six New Zealand women's experiences of living with increased risk for a genetic susceptibility to breast cancer.METHODSSix women were interviewed using semi-structured interviews, to explore their experiences of living at high risk for developing breast cancer due to familial and/or individual genetic susceptibilities. Results were analysed using thematic coding. After a three-year interval, interviewees were contacted again to discuss their experiences (although two were lost to follow-up).FINDINGSThe women held fatalistic views on developing cancer and drew on family experience as much as biomedical research to assess their situation. They became increasingly immersed in biomedical screening and prophylaxis without accompanying improvement to their peace of mind and with unrealistic ideas of it 'preventing' cancer. The biomedical management options and advice they reported receiving was factually inconsistent and a discrepancy emerged between women's expectations of breast cancer health services (including genetic testing) and the delivered support and services.CONCLUSIONThis small sample group cannot be used to draw implications on the views of the wider group of higher risk patients, but for these six women, genetic testing, screening and prophylaxis have not provided peace of mind; rather the reverse has occurred. The findings are provocative as they challenge the biomedical idea of patients' experience of managing their genetic risk information as routinely positive.

'Going-to-have-cancerness': a study of living with increased risk of BRCA1 and BRCA2 mutations for six South Island women