James Kollias

BACKGROUND: Current surgical treatment modalities for breast cancer include breast conserving surgery, mastectomy alone and mastectomy with breast reconstruction. There are recognized benefits of breast conservation and breast reconstruction over mastectomy but there are few studies assessing this area in Australia. The aim of the present study was to compare the various surgical strategies for breast cancer treatment in terms of quality of life, cosmesis and patient satisfaction. METHODS: A chart analysis was conducted of all patients who underwent Breast Cancer Reconstruction at the Royal Adelaide Hospital Breast Unit between 1990 and 2002. Patients were then traced and asked to take part in an interview. Mastectomy and breast conservation patients who attended outpatient clinic for follow up were also approached. All three groups were interviewed and self-assessment quality of life questionnaires (Functional Assessment of Cancer Therapy-Breast, body image) were administered. The breast conservation and reconstruction groups also underwent assessment of satisfaction and cosmesis. RESULTS: A total of 78 mastectomy, 109 breast conservation and 123 breast reconstruction patients were interviewed. Quality of life assessment was similar between the three groups but the breast conservation and reconstruction patients' body image scores were superior to the mastectomy group. Patient satisfaction was higher in the reconstruction group than the breast conservation group of patients, while cosmesis was similar. CONCLUSION: While little difference was seen on quality of life assessment, body image is improved with the use of breast conservation and reconstruction. The high satisfaction and cosmesis scores in the breast reconstruction group are an indication of the superior results that can be achieved with breast reconstruction.

Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA samples provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case-control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.