Discovery signals new treatments for women at high risk of breast and ovarian cancer
Posted Apr 01 2014 4:15am
Currently around one in 1,000 women in the UK carry what is known as a BRCA1 mutationA change in the genetic material (DNA) of a cell, or the change this this causes in a characteristic of the individual, which is not caused by normal genetic processes., which is the same condition that prompted high-profile actress Angelina Jolie to undergo a double mastectomy. They have up to an 85 per cent risk of developing breast cancerAbnormal, uncontrolled cell division resulting in a malignant tumour that may invade surrounding tissues or spread to distant parts of the body., and up to 40 per cent risk of developing ovarianrelating to the ovaries cancer, in their lifetimes.
Until now, preventive surgery to remove the breasts (mastectomy) and ovariesFemale reproductive organs situated one on either side of the uterus (womb). They produce egg cells (ova) and hormones in a monthly cycle. (oophorectomy) has been the only way of reducing the risk of developing both types of cancers.
However, a new discovery by researchers in Queen's University Centre for Cancer Research and Cell Biology (CCRCB) may mean women affected with BRCA1 could use drugs, which are already available, to reduce their risk of developing the disease, rather than undergo irreversible surgery. In turn, such treatments would open up the possibility of some of these women, who might otherwise have an oophorectomy, still being able to have children.
The new research carried out by Dr Kienan Savage and Professor Paul Harkin at CCRCB proves there is a direct link between high levels of oestrogenA hormone involved in female sexual development, produced by the ovaries. and DNAThe building blocks of the genes in almost all living organisms - spelt out in full as deoxyribonucleic acid. damage, which causes cancer, in the breasts and ovariestwo small organs that are part of the female reproductive system where eggs mature.
Specifically, the scientists discovered that the cells of women with the BRCA1 mutation cannot effectively fight the very high levels of oestrogen that exist in all women's breasts and ovaries, leaving them vulnerable to DNA damage.
While this link between oestrogen, breast and ovarian cancer and BRCA1 mutation has been suspected by the scientific community for years, it has not been established until now.
Dr Savage, who led the research, said: "This discovery is very significant in the management of women with the BRCA1 geneThe basic unit of genetic material carried on chromosomes. mutation. It's the first really credible evidence that oestrogen is driving cancer in women with a BRCA1 gene mutation. Because of this discovery, we now have the opportunity to propose an alternative treatment to surgery. It also opens up the possibility of pausing treatment for a period in order for women to have children, if desired.
"What also makes this exciting is that there are drugs already on the market which turn off oestrogen production. In theory, we could use these drugs to chemically reduce oestrogen production in women which could negate the need for irreversible surgery."
The Queen's-led research, which has been ongoing for four years, was carried out with funding from Cancer Focus NI and Cancer Research UK.
Professor David Waugh, Director of the Centre for Cancer Research and Cell Biology at Queen's, said: "This breakthrough by researchers at CCRCB is great news for women with the BRCA1 gene and the cancer research community as a whole. It is pivotal in that it reveals more about the mechanisms behind breast and ovarian cancer.
"This work of Dr Kienan Savage and Professor Paul Harkin is further example of the world-leading research being undertaken at Queen's which continues to advance knowledge and change lives."
Roisin Foster, Chief Executive of Cancer Focus Northern Ireland, said: "Cancer Focus is delighted to fund this ground-breaking research into breast cancer, which has the potential in the foreseeable future to benefit women all over the world. We are only able to support this vital work because of the generosity of our local community."
The researchers are currently seeking funding to launch clinical trials and hope to do so within 12 months. It is envisaged that, in the first instance, a small control trial will be carried out using a combination of two drugs on 12 women for a period of three months, using biopsyThe removal of a small sample of cells or tissue so that it may be examined under a microscope. The term may also refer to the tissue sample itself., and bloodA fluid that transports oxygen and other substances through the body, made up of blood cells suspended in a liquid. and urine samples to track DNA damage.
The research was published in the latest edition of the prestigious USA-based journal Cancer Research.