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Research studies and hereditary breast cancer


Research studies can include a range of projects from single experiments in the laboratory to large population studies involving thousands of people.

Examples of research studies include:

  • The identification of new genes through epidemiological studies - these are studies on human populations, which investigate potential links between breast cancer and a specific gene or combination of genes.


  • The identification of new targets for treatment - these are usually carried out in a laboratory and look at specific genes, how they act in a cell, how they may lead to cancer and how this cancer-causing effect may be dealt with. See some of the research projects at Breakthrough’s Research Centre.


  • The identification of factors influencing the cause or progression of disease through lifestyle studies. One example of this is the Breakthrough Generations study - the UK’s largest study into the causes of breast cancer.

Unlike clinical trials, no specific information on the results of research studies will be fed back to participants (although most research studies offer to send participants a copy of the study findings when completed). However, participation in research studies is vital for the development of new treatments for future generations. The BRCA 1 and BRCA 2 genes were found through research studies.

Some research studies for hereditary breast and ovarian and cancer are described on this site:

  • FABCS (the Familial Association in Breast Cancer Study)

  • EMBRACE (Epidemiological Study of Familial Breast Cancer)

  • POSH (Prospective study of Outcomes in Sporadic versus Hereditary Breast Cancer).

Other research studies are listed on the Cancer Research UK web site.

Any new tests or drugs developed as a result of research studies will have to go through clinical trials before becoming widely available.

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