Testing could have saved mum

HAPPY TIME: Rochelle Gold with mother Phyllis Harris

MORE than 20 years have passed since scientists discovered that faults in two key genes - BRCA1 and BRCA2 - significantly increased the risk of breast and ovarian cancer.

It is now known that around one in 800 people have a fault in the BRCA1 or BRCA2 genes.

But the genetic faults are much more common in people who have Ashkenazi heritage, with one in 40 Ashkenazim believed to have the mutations.

As part of Ovarian Cancer Awareness Month, Rochelle Gold, of Leeds, spoke about her experiences with cancer.

"The research that led to the identification of the BRCA genetic mutations has potentially saved my life," the 38-year-old said. "It's essentially helping to prevent me getting cancer."

Her mother, Phyllis Harris, was just 64 when she died from breast cancer.

Phyllis' mother had suffered from breast cancer and her father also died from cancer.

She said: "Mum always worried that she would get breast cancer because her mum had had it.

"She went to her GP and he told her not to worry as it wasn't genetic, that breast cancer is like a lottery and that someone points their finger and says 'it's you'.

"But that isn't the case, and if he had asked her about her family history, he would have found that two of her aunties also had breast or ovarian cancer and that she should be referred to genetic testing to see if she was at risk."

Phyllis wasn't referred and in September, 2013, she was diagnosed with breast cancer - it was only then that she was offered genetic testing.

After undergoing chemotherapy and radiotherapy, Phyllis was tested for the BRCA mutations and found she had faults in both genes.

She was given the all-clear from cancer after a year.

Following the discovery of the genetic link, Rochelle decided to have tests and in August, 2015, she received a positive result for the BRCA2 mutation.

She recalled: "It meant I had the opportunity to do something to reduce my risk of getting breast cancer.

"I always said that if I had the fault I would have preventative surgery."

Later that year, Phyllis became unwell and was referred back to St James's University Hospital, where she was told she had secondary tumours, mainly in her liver.

Rochelle said: "They told her that it would kill her and two weeks later she died.

"The cancer was extremely aggressive, and although they tried to give her chemotherapy, there was nothing they could do.

"I'd already decided that I would have surgery, and mum dying cemented that."

Rochelle underwent a double mastectomy in April, 2016.

She is currently being monitored for ovarian cancer through regular blood tests and ultrasounds, but has arranged to have a full hysterectomy later this year as it means she will only need to take one type of hormone replacement therapy.

Before the operation to remove her breasts, Rochelle's lifetime risk of developing breast cancer was around 85 per cent.

After her hysterectomy it will reduce to five per cent.

She said: "The good thing about the operation I had is that you are never without breasts as you have them reconstructed at the same time."

Rochelle is eager to spread the word about the high risk of BRCA gene faults in the Jewish community in Leeds because, she estimates, there are around 250 Ashkenazim living in Leeds that could have the genetic mutations.

"There has to be something good that comes from what we've been through," she said.

"If we had known about the BRCA mutation earlier, we could have done something before mum got cancer. She could still be here."

Testing for the BRCA gene is only available to those aged over 18, so it will be a few years before Rochelle needs to worry about the affect her family genetics may have on her daughter, who is four, and son, two.

"Essentially, you can eradicate the gene mutation and there's a possibility that we could stop this thing altogether," Rochelle added.

"When you lose someone through cancer, a part of you goes with them, so if you can prevent that from happening, it keeps you whole, and keeps your family whole - I want to help to keep other families whole.

"Mum would never want a fuss about her.

"She never wanted to be in the limelight, but thanks to the BRCA test, she's now saving lives left, right and centre."

Symptoms of ovarian cancer include: increased abdominal size and persistent bloating; persistent pelvic and abdominal pain; difficulty eating and feeling full quickly; needing to wee more urgently or more often than usual.

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