Prospective study of high-risk, BRCA1/2-mutation negative women: the ‘negative study’

BMC Cancer

Joanne Kotsopoulos⁴  Kelly Metcalfe⁵  Jill Alston³  Dina Nikitina³  Ophira Ginsburg⁴  Andrea Eisen⁶  Rochelle Demsky²  Mohammad Akbari⁴  Kevin Zbuk¹  Steven A Narod⁴ 

[1] Population Health Research Institute, Hamilton Health Sciences, McMaster University, 237 Barton Street East, Hamilton, ON L8L 2X2, Canada

[2] Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, University of Toronto, 92 College Street, Toronto, ON M5G 1 L4, Canada

[3] Familial Breast Cancer Unit, Women’s College Research Institute, 790 Bay St, 7th Floor, Toronto, ON M5G 1 N8, Canada

[4] Dalla Lana School of Public Health, University of Toronto, 155 College St, Toronto, ON M5T 3 M7, Canada

[5] Lawrence S. Bloomberg Faculty of Nursing, 155 College St, Toronto, ON M5T 3 M7, Canada

[6] Toronto-Sunnybrook Regional Cancer Center, 2075 Bayview Ave, Toronto, ON M4N 3 M5, Canada

关键词: Screening;    Prospective cohort;    Hormones;    Lifestyle;    Diet;    BRCA1/2 mutation;    Prevention;    Risk factors;    Breast cancer;    Family history;   

Others  :  858936
DOI  :  10.1186/1471-2407-14-221

 received in 2014-02-19, accepted in 2014-03-10,  发布年份 2014

【 摘 要 】

Background

We previously reported that women from high-risk families who tested negative for a BRCA1 or BRCA2 (BRCA1/2) mutation were four times more likely to develop breast cancer compared to women in the general population. Preventive measures and risk factors for breast cancer development in these high-risk women have not been evaluated to the same extent as BRCA1/2 positive women. Further, there is virtually no scientific evidence about best practices in their management and care. The proposed study will examine a role of genetic and non-genetic factors and develop the systems and parameters for the monitoring and surveillance necessary to help establish guidelines for the care of this high-risk population.

Methods/Design

To achieve our goals, we will assemble and follow a Canadian cohort of 1,000 cancer-free women with a strong family history breast cancer (defined as two or more relatives affected by breast cancer under the age of 50, or three or more relatives diagnosed with breast cancer at any age from one side of the family and with no BRCA1/2 mutation in the family). All eligible participants will be mailed a study package including invitation to participate, consent form, a research questionnaire to collect data regarding family history, reproductive and lifestyle factors, as well as screening and surgery. Usual dietary intake will be assessed by a diet history questionnaire. Biological samples including toenail clippings, urine and blood samples will be collected. These women will be followed every two years by questionnaire to update exposure information, screening practices, surgical and chemoprevention, and disease development.

Discussion

Findings from this study will serve to help establish clinical guidelines for the implementation of prevention, counseling, and treatment practices for women who face an elevated risk of breast cancer due to family history, but who do not carry a BRCA1/2 mutation.

【 授权许可】

   
2014 Kotsopoulos et al.; licensee BioMed Central Ltd.

【 图 表 】

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