Local sisters who carry a rare genetic mutation which strongly increases breast cancer risk have launched an awareness campaign – hoping to raise awareness and increase screening for it in a similar way actress Angelina Jolie did after she discovered she carried a gene mutation.
The ‘Tomb Raider’ actress and former wife of Brad Pitt had a preventative double mastectomy in 2013 due to a ‘faulty’ BRCA1 gene which increased her cancer risk. She underwent surgery as a preventative measure after doctors found she carried the mutation.
The rarer PALB2 gene was discovered in 2006 and has been linked to breast cancer since 2007 but was only added to breast cancer genetic testing in 2014.
In the middle of the pandemic in September 2020, Donna Power from Tunbridge Wells was plunged into her own personal health crisis when she was diagnosed with breast cancer, then learned she had a high-risk genetic mutation – all in quick succession.
She was only 37, but there was family history, so she requested private genetic testing and it was discovered she had the lesser-known PALB2 gene mutation.
Donna said: “I just couldn’t believe it. I felt like there was just such a run of bad news coming in different waves and it was hard to navigate through it.
“We are already working with healthcare professionals and genetics testing companies to see how we can generate more awareness and access to testing.”
“It became incredibly stressful because I was being advised that I would not need radiation if I had a double mastectomy, but if I completed the radiation as advised without a mastectomy, reconstruction later in life would be very difficult.”
Donna eventually underwent radiotherapy rather than surgery, but when one of her sisters, Jade, also tested positive for the PALB2 mutation, she chose a different path.
Jade, whose baby boy is now 10 months old, had the surgery two weeks ago, explaining: “Having a double mastectomy means I will reduce my risk of developing breast cancer by over 90 per cent.
“As a new young mum, I just want to put myself in the best possible situation, especially after seeing my sister was diagnosed so young.”
Now 39 and 29, Donna and Jade have launched a social media campaign, #NotJustBRCA, to increase awareness and to call for increased testing, saying: “We never want to see another woman (or man) have to find out they have a gene mutation at the point of diagnosis.
“We believe in testing for everyone.
“We are already working with healthcare professionals and genetics testing companies to see how we can generate more awareness and access to testing.”
The NHS currently does not fund genetic testing for any of these genes unless there is a family history or a positive family test for a gene mutation, or when patients are diagnosed with breast cancers that meet certain criteria.
One in seven women will develop breast cancer in their lifetime, and women with mutations in breast cancer genes are more likely to be diagnosed with breast cancer at a younger age, as well as to have cancer in both breasts.
On average, a woman with a BRCA1, BRCA2 or PALB2 gene mutation has up to a seven in ten chance of getting breast cancer by age 80.
Up to 50 per cent of women with a faulty PALB2 gene will develop breast cancer by the age of 70.
It is estimated one in 700 women and men carry a mutated PALB2.
Instagram: @notjustbrca
