This portfolio thesis is comprised of three parts: a systematic literature review, an empirical report and supporting appendices. Part one is a systematic literature review which explores experiences women have of making family planning decisions following BRCA gene diagnosis. A systematic search of five databases found five papers suitable for review. Themes and subthemes are identified and discussed, along with a review of the methodological quality of the reviewed papers. Implications for clinical practice and future research are discussed. Part two is an empirical report of an original piece of research exploring women's experiences of undergoing prophylactic (preventative) mastectomies following BRCA gene diagnosis. Data was collected via semi-structured interviews with each of the three participants. Interpretative Phenomenological Analysis (IPA) was carried out, with four themes identified and discussed in relation to each individual participant interview. Implications for future research within this population are discussed, as well as implications for clinical practice. Part three is a collection of combined appendices for both the literature review and empirical report, including an epistemological statement and a reflective statement from the researcher.