Angelina Jolie had a preventive double mastectomy and oophorectomy after learning she had an 87 per cent risk of developing breast cancer due to a defective BRCA1 gene. Photo / AP
Angelina Jolie had a preventive double mastectomy and oophorectomy after learning she had an 87 per cent risk of developing breast cancer due to a defective BRCA1 gene. Photo / AP
Study could help women decide on BRCA test highlighted by Angelina Jolie.
The cancer-causing gene mutation that actress Angelina Jolie famously pre-empted with preventive surgery is the focus of groundbreaking new Kiwi research.
Dr Logan Walker and colleagues at the University of Otago will develop a new method of pin-pointing those patients most likely to benefit from genetic screening of the BRCAgene mutations, which greatly increase the risk of breast cancer in those who carry it.
The New Zealand Breast Cancer Foundation estimates a woman with a BRCA gene change will have a 50 to 85 per cent lifetime risk of developing breast cancer, and a 20 to 40 per cent risk of developing ovarian cancer.
This was compared with the general population risk of around 10 per cent for breast cancer, and 1.6 per cent for ovarian cancer.
The gene mutation came under the world spotlight when its best-known carrier, Angelina Jolie, had her breasts and ovaries removed after genetic tests revealed she had an extremely high risk of developing cancer due to a defective BRCA1 gene.
For most women, however, current genetic testing is expensive and arguably inefficient, returning few positive results for the number of them screened.
Dr Walker and his team now believe their new tissue analysis procedure will enable patients to be accurately prioritised for genetic testing, and will allow for better evaluation of test results.
"With this study, New Zealand will continue to play a vital role in improving international best practice in genetic screening for breast cancer."
The research will be funded by a grant of nearly $200,000 from the foundation, in conjunction with the Health Research Council and Breast Cancer Cure.
Meanwhile, another study, which has received a grant of the same size, will allow research to explore whether aspirin can provide a boost in anti-oestrogen therapies. The therapies treat the most common form of breast cancer, ER+, which affects two-thirds of patients.
In their new work, Dr Anita Dunbier and her team will analyse the molecular changes which occur during treatment with aspirin and anti-oestrogen drugs, such as tamoxifen.
Their analysis will indicate whether aspirin is likely to help patients in the long term, and will define biomarkers to identify which patients will benefit most.
Dr Dunbier said it was known that some patients did not respond to drugs like tamoxifen, "but we don't always know why".
"We're hoping that our trial will show that aspirin can help target inflammation in the tumour to improve the effectiveness of the anti-oestrogen therapy.
"This additional funding will allow us to see exactly how that's happening."
Husband welcomes research
Paul Leslie, Gwyllym, 13, and Guinevere, 8, lost wife and mum Miffy to cancer. Photo / Supplied
One of the last things Miffy Jones asked her husband was that their young daughter be checked for the same cancer-causing gene mutation that robbed her of a long life.
So, for Paul Leslie, new research that stands to improve genetic screening for potentially at-risk people like 8-year-old Guinevere couldn't be more important.
Ms Jones was diagnosed with triple-negative cancer in November 2010, just before her 41st birthday.
Miffy Jones was diagnosed with triple-negative cancer in November 2010, just before her 41st birthday. Photo / Supplied
Although she began chemotherapy and radiation, and had a double mastectomy, the disease spread to her lungs and she was soon told the cancer was terminal.
Mr Leslie lost his wife, and young Guinevere and older brother Gwyllym, now 13, lost their mum, on September 14, 2012.
"It certainly got dropped on us pretty heavily and we tried everything possible to counter it," Mr Leslie said yesterday.
"Obviously Miffy was challenging the oncologists to look at ways to get a cure - but unfortunately the little tumours were pretty powerful."
The Kaukapakapa resident said his wife would be glad to know New Zealand scientists were working on research that may allow other families a chance to avoid their heartbreak.
"In her last months, Miffy was certainly looking into all those sorts of things around family history, and that's something she definitely wanted me to follow through on when Guinevere gets to her older years," he said.
"Breast cancer affects so many people - too many people - so this [research] is a great step forward."
The BRCA danger
• BRCA1 and BRCA2 are both tumour suppressor genes with a protective role in preventing cancer from developing - if there is a fault in either, the gene can no longer function normally and there is a higher chance a tumour may develop, and usually at a younger age.
• It is estimated a woman with a BRCA gene change will have a 50 to 85 per cent lifetime risk of developing breast cancer - compared with general population risk of about 10 per cent - and a 20 to 40 per cent risk of developing ovarian cancer compared with 1.6 per cent.
• If an individual carries a BRCA gene fault, there is a 50/50 chance they will pass that copy of the gene on to each child.
• Actor Angelina Jolie, whose mother and grandmother died from ovarian cancer, had a preventive double mastectomy and oophorectomy after learning she had an 87 per cent risk of developing breast cancer due to a defective BRCA1 gene.
