This study aims to evaluate if a light based technique, called Optical Breast Spectroscopy (OBS) formerly known as Transillumination Breast Spectroscopy (TiBS), can be used to detect differences in breast tissue between high- and low-risk populations and within the high-risk population between BrCa1 or 2 carriers and non-carriers. These differences may include differences in breast tissue composition and metabolism at time of enrollment into the study (possibly reflecting changes occurring in adolescence) and in the rate of breast tissue change over time (possibly reflecting rate of tissue transformation from normal to ultimately malignant state).

Preliminary data show Optical Breast Spectroscopy (OBS)has the ability to detect tissue differences with various pathologies and age-related changes in breast tissue over a two year period. In the present study, we want to determine whether OBS has the ability to detect optical differences between women who harbor a mutation in the breast cancer susceptibility gene, BrCa1 or BrCa2, and their age-matched controls (non-carriers). More specifically, possible differences in the breast tissue at time of enrollment into the study (reflecting changes potentially occurring in adolescence) and in the rate of breast tissue change over time (reflecting rate of tissue transformation from normal to ultimately malignant state). The overall goal is to develop a pre-screening technique to survey or monitor the risk of breast tissue and to advise the earliest point when imaging techniques (e.g. MRI) should be initiated or when more drastic primary prevention measures are recommended.

Inclusion Criteria:

BrCa carriers (cases)

• Attending one of the three participating high-risk screening centres
• Confirmed BrCa1 or BrCa2 mutation status through genetic testing

High-Risk (cases)

• Attending one of the three participating high-risk screening centres
• Confirmed negative BrCa1/2 status through genetic testing

BrCa non-carriers (controls)

• Attain a GAIL model score of <1.1 and have <10% risk of carrying the BRCa mutation Determined by the Penn II model)
• Controls from high-risk screening centre with confirmed BrCa1/2 negative status through genetic testing
• Preference will be given to sisters or first degree cousins of BrCa carriers

Exclusion Criteria:

Cases and Controls

• Prior diagnosis or Breast or Ovarian Cancer

• Bilateral biopsy or fine needle aspiration within 1 year of study start

• Bilateral mastectomy, lumpectomy or cosmetic alteration (reduction/augmentation)

• Previous or current chemotherapy or prevention therapy (Tamoxifen)

• Less than 3 years post pregnancy at study start

• inability to provide informed consent due to language or cognitive difficulties

  *For controls only

• Family history of breast cancer where family member had an early diagnosis (before age 45 years)

• Family history or ovarian cancer

Cases are recruited from three participating high-risk screening centres: Familial Breast and Ovarian Cancer Programs at Mount Sinai Hospital and/or Princess Margaret Hospital (Toronto, Ontario, Canada), the Juravinski Cancer Center (Hamilton, Ontario, Canada) and Women's College Hsopital (toronto, Ontario, Canada). Controls are recruited from the respective geographical locations.