The news of Hollywood actress Angelina Jolie’s double mastectomy has been discussed worldwide and has successfully raised awareness of this seemingly drastic form of prevention for women who carry a high risk of breast cancer.

The BRCA1 and BRCA2 genes were identified in breast and ovarian cancer in the 1980’s and advances in genetic diagnosis and DNA profiling over the past 20 years has enabled patients to fairly accurately determine their risk of developing inherited diseases. With the presence of faulty genes increasing the risk of developing breast cancer, testing for this is becoming an increasingly common diagnostic for women who have a strong family history of the breast cancer.

In the UK around 3,000 women have undergone the same radical surgery as a preventative measure against developing breast cancer.

Dr Hartmut Kristeleit, one of the team at Independent Oncology and a specialist in breast cancer commented

” This news story has brought focus to two rare causes of breast cancer: the BRCA1 and BRCA2 genes. These two genes play an important role in repairing damaged DNA, the genetic code within every cell. A problem with either of the BRCA genes results in faulty DNA repair which again leads to the accumulation of mutations, i.e. genetic changes. Over time these mutations can increase the risk of developing cancer. A mutation in either BRCA gene can explain the development of cancer in approximately 20% of cases of familial breast cancer. Families with a BRCA mutation may also have cases of ovarian cancer and in case of BRCA2 mutation pancreatic or prostate cancer. However, familial breast cancer is infrequent and only seen in 1 in 10 women with the disease. Mutation in either BRCA gene are found in only approximately 20% of familial cases which means that these genes explain breast cancer in only 2% of all breast cancer diagnosis – a rare cause.”

The genes are inherited in an autosomal dominant fashion, which means that there is a 50% chance to passing them on to children. Not every carrier of a faulty gene will get cancer, but the risk of developing breast or ovarian cancer for women with a BRCA mutation can be as high as 90% during their lifetime. To reduce the risk of developing breast cancer some women with BRCA mutations opt to have prophylactic bilateral mastectomies. This radical operation does not abolish the risk of developing the disease but significantly reduces the chances. Often the operation is combined with an immediate reconstruction. Upon completion of their family planning many women also opt for removal of their tubes and ovaries, a bilateral salpingo-oophorectomy, in their mid to late thirties. This reduces the risk of developing ovarian cancer, which is also associated with BRCA mutations.

Risk reducing surgery is an important option for women at high risk of developing the disease. Thankfully, mutations in BRCA genes are infrequent and this most radical form of cancer prevention only applies to a small number of women.”

Independent Oncology’s medical consultant, Dr Rebecca Kristeleit who specialises in gynaecological cancers, including ovarian cancer, said

“Both patients and doctors are becoming more aware of considering an underlying genetic cause of breast and ovarian cancer. BRCA testing is not yet widely available through the NHS but can be done for a small subgroup of patients fitting certain criteria that include a strong family history of cancer. There are drugs in development called PARP inhibitors that may have particular benefit in some patients with a BRCA mutation and advanced cancer.”

For more information on the BRCA genes, visit the cancer research site: BRCA Gene