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BMC Cancer
Published in: BMC Cancer 1/2014

Open Access 01-12-2014 | Study protocol

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

Authors: Joanne Kotsopoulos, Kelly Metcalfe, Jill Alston, Dina Nikitina, Ophira Ginsburg, Andrea Eisen, Rochelle Demsky, Mohammad Akbari, Kevin Zbuk, Steven A Narod

Published in: BMC Cancer | Issue 1/2014

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Abstract

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.
Appendix
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Metadata
Title
Prospective study of high-risk, BRCA1/2-mutation negative women: the ‘negative study’
Authors
Joanne Kotsopoulos
Kelly Metcalfe
Jill Alston
Dina Nikitina
Ophira Ginsburg
Andrea Eisen
Rochelle Demsky
Mohammad Akbari
Kevin Zbuk
Steven A Narod
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2014
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-14-221

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