Author: Tracey McAlpine Category: Health, Cancer

Research shows that an alarming 63% of women are unaware of BRCA gene mutation

Angelina Jolie’s decision to have a double mastectomy may have highlighted the risk of developing breast cancer by being a carrier of the BRCA gene, but it hasn’t encouraged women with a family history of cancer being tested.  The study by medical research charity Ovarian Cancer Action to mark Ovarian Cancer Awareness Month (March) shows that while almost 90% of women are aware of the Angelina story, and more than 90% understood her decision to undergo the double mastectomy, only one in ten were then prompted by it to look into their own family history of breast or ovarian cancer.  Of those that did look into their family history, only 2% had a genetic test for the BRCA gene mutation, while a third found it difficult to find out information about their family’s history of ovarian and breast cancer.

What are BRCA1 and BRCA2?

Everyone has the BRCA1 and BRCA2 gene, in fact we have two copies of each gene as we get one from our mothers and one from our father.  The BRCA1 and BRCA2 are genes which produce tumour suppressor proteins.  It’s these proteins which help to repair damaged DNA and play a part in keeping the cell stable.  If either of these genes are damaged or mutated, so that its protein product is not made, or does not function correctly, DNA damage may not be repaired properly.  This results in cells which are more likely to develop additional generic alterations which can lead to cancer.

The harmful BRCA1 or BRCA2 mutation can be inherited from either parent.  If your parent carries a mutation in one of these genes you have a 50% chance of inheriting it.  The BRCA gene mutation affects both men and women leading to an increased risk of breast cancer, and for women and/or ovarian cancer. 

A family history of breast and/or ovarian cancer may indicate that there is the presence of a BRCA1/2 mutation, which increases the risk of getting ovarian cancer from 1 in 54 to 1 in 2.  The message for ALL women, especially those with a significant family history of either breast and/or ovarian cancer, is to be ‘BRCA aware’ by checking out your family medical history.  

Who should consider genetic testing for BRCA1 and BRCA2 mutations?

Although harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, experts advise that when a person’s family history suggests the possible presence of a harmful mutation they should be tested.

Individuals with a personal or family history of breast cancer appearing before age 50, ovarian cancer at any age, breast cancer in both breasts, male breast cancer, multiple cases of breast cancer within a family, would benefit from testing.

What holds women back from being tested?

The latest study carried out by Ovarian Cancer Action found that an alarming 63% of women were unaware of BRCA gene mutation; a similar amount said they didn’t know where to find out more information about genetic testing, and others were nervous about talking about the heredity gene with their family.

Known as the most deadly gynaecological cancers – ovarian cancer kills 1 woman every 2 hours here in the UK and with 7,000 new UK diagnoses each year.  A shocking 32% of ovarian cancer patients in the UK are diagnosed each year through an emergency route.  There’s currently no screening tool for ovarian cancer and symptoms are often confused by both women and doctors for other conditions.  Of the women surveyed, more than half were unaware that persistent stomach pains and bloating could be a sign.  Likewise 60% were unaware increased stomach size, 85% difficulty eating or feeling full quickly, and 80% needing to urinate more frequently were clear signs of ovarian cancer.

Ovarian Cancer Action

The charity has launched a BRCA Risk Tool – an online risk calculator designed to help people make more informed choices about whether BRCA1/2 testing should be considered. 

Check your family medical history and if you are concerned see your doctor in the first instance.  The Royal Marsden Hospital have published A beginners Guide to BRCA1 and BRCA2 you can view it here.

Ovarian Cancer Action