Lipid and Metabolite Deregulation in the Breast Tissue of Women Carrying BRCA1 and BRCA2 Genetic Mutations.

PURPOSE: To use localized correlated spectroscopy (COSY) to assess for an altered biochemical state or states in breast tissue of women with BRCA gene mutations that potentially constitute preinvasive conditions. MATERIALS AND METHODS: Institutional review board approval was obtained. Participants provided written informed consent. In vivo localized COSY images were recorded at 3 T in the breast tissue of women carrying BRCA1 (n = 9) or BRCA2 (n = 14) gene mutations and were compared with images in healthy control subjects with no family history of breast cancer (n = 10). All participants underwent contrast material-enhanced MR imaging and ultrasonography (US). Statistical significance was calculated with the Mann-Whitney two-sided nonparametric test. RESULTS: No abnormality was recorded with MR imaging or US. Metabolite levels in the BRCA1 cohort were reduced by 79% (P = .014) when compared with triglycerides level, and there was a 19% increase in lipid unsaturation and triglyceride levels (P = .027 and P = .086, respectively) when compared with cellular cholesterol level. Cholesterol level was reduced by 47% (P = .027) when compared with diallylic lipid level. Metabolite levels in the BRCA2 cohort showed increased unsaturation of 21% (P = .030) relative to triglycerides level. Comparison of the BRCA1 and BRCA2 cohorts showed a 47% (P = .002) increase in cholesterol level in the BRCA2 cohort when compared with diallylic lipid level and a 52% (P = .003) increase when compared with triglycerides level. Levels of diallylic lipid, unsaturated lipid, triglycerides, and terminal methyl on the acyl chain are reduced by 46% (P = .002), 57% (P = .003), 66% (P = .003), and 29% (P = .010), respectively, when compared with cholesterol level. CONCLUSION: Localized COSY recorded significant changes in women with BRCA1 and BRCA2 gene mutations when compared with control subjects. If these changes are ultimately proven to be a premalignant stage, this method may prove useful in screening.

Cross-sectional survey to inform the development of a telehealth support model: a feasibility study for women undergoing breast cancer surgery.

BACKGROUND: For patients undergoing breast cancer surgery, the pre- and post-operative periods can be characterised by feelings of fear, anxiety, and uncertainty. Telehealth offers an opportunity to provide perioperative support to surgical patients and overcome some of the barriers to accessing care. AIMS: In order to inform the development of a telehealth support model for women undergoing breast cancer surgery, this feasibility study explored: (a) access and preferences for telehealth; and (b) the proportion of participants who reported problems with unmet information and preparation needs related to surgery, post-operative pain, anxiety, and quality of life. METHODS: Women aged 18-85 years attending for a follow-up appointment within 2 months of undergoing surgery for breast cancer were asked to complete a baseline (T1) and 1-month follow-up (T2) survey. Surveys assessed telehealth access and preferences, preparatory information receipt and preparedness for surgery, and anxiety, pain, and quality of life. RESULTS: Fifty-three T1 (45% consent rate) and 50 T2 surveys were returned. One fifth of the sample (20%) travelled 50 km or more to access surgery. Most participants had access to a device suitable for telehealth (75%); however, only 15% indicated that they would have accepted a teleconsultation with their surgeon post-operatively if this had been offered. The most frequently reported unmet preparatory information needs were information about: how long it would take to recover from the surgery; how other patients had experienced similar surgery; and practical needs such as parking or transport. Approximately one third of the sample reported potentially clinically significant symptoms of anxiety, and less than one in ten women reported moderate levels of pain. CONCLUSIONS: While the majority of women had access to a suitable device and internet connection for telehealth, less than one fifth would have accepted a home-based video-link teleconsultation with their surgeon post-operatively. A small proportion of the sample would have liked more information about aspects of surgery including about managing side effects and anxiety. The key findings in terms of teleconsultation preferences and information and preparation needs from this study will be incorporated into the telehealth support model being developed.