Cash plea by team who found second Angelina cancer gene
CANCER scientists today issued a fresh plea for support as they celebrate the 25th anniversary of one of the greatest breakthroughs in breast cancer research.
On December 21 1995, a team part- funded by Cancer Research UK published a landmark study on the discovery of the second breast cancer gene BRCA2.
Their work paved the way for genetic screening of people with a family history of the disease, and for new treatments.
And in 2013 actress Angelina Jolie underwent a double mastectomy after being told she carried a “faulty” BRCA1 gene, discovered in 1994. Two years later she also had her ovaries and fallopian tubes removed.
Now the Daily Express is calling for Government support as charities’ revenue is hit by the Covid epidemic.
Faults in the BRCA genes increase risk of breast, ovarian and prostate cancer and are responsible for most cases of hereditary breast cancer – around five per cent of all breast cancers.
In the early 90s, scientists discovered the existence of BRCA1 and pinpointed its location on chromosome 17.
But it did not explain all family clusters of breast cancer.
An international team led by Professor Sir Mike Stratton at The Institute of Cancer Research, in London, set out to find a second gene they believed was playing an important role.
The team was competing with scientists across the globe, some of whom planned to patent and commercialise it if they got there first.
Prof Stratton said: “It was very much a roller coaster in which the whole team put their heart and soul.
“It was hugely intense, it was night and day seven days a week, the whole team doing huge amounts of work.”
By studying DNA samples from families whose high risk was not explained by BRCA1, the team narrowed down the location of BRCA2 to a region on chromosome 13.
They then isolated around five to 10 genes and began painstakingly hunting for mistakes in the DNA sequence. In October 1995, they spotted something.
He said: “That was an extremely exciting and rather humbling morning because we realised we had landed in the gene and we were the first to see what the gene sequence was.
“We were now on a track to find the rest of the gene, release it and get it used in clinical practice.”
Around one in 1,000 people carry a fault in one of the BRCA genes.
Affected women have roughly an 80 per cent chance of developing breast cancer in their lifetime – compared to a 12 per cent chance in the general population.
They also have more than a 50 per cent chance of getting ovarian cancer.
The breakthrough also laid the groundwork for new drugs, such as PARP inhibitors which are used to treat breast, prostate and ovarian cancers that have a BRCA2 mutation.
Prof Stratton, now director of the Wellcome Sanger Institute, said: “I feel immense pride and satisfaction when I look back at the spirit and intensity of the work that was put in by my team and that collaboration over all those years.
“It displayed such intense commitment to the betterment of the lives of women in these families and it delivered that.
“There can be no greater satisfaction for a scientist than doing that,” he added.
Researchers may be celebrating the BRCA2 discovery, but some fear the devastating effect of the Covid pandemic on charities such as CRUK puts work in jeopardy.
Prof Stratton said: “Cancer research is going to go through very difficult times over the next few years because they are going to be short of money. The catastrophe of Covid- 19 means that the fuel that goes into that engine of funding will be much less.”
The charity’s chief executive, Michelle Mitchell, said: “The discovery of BRCA2 gave much needed answers to families with a strong history of breast cancer. It also set off an incredible chain reaction of discoveries that have been life changing for patients with BRCA cancers.
“Thanks to the support of the Daily Express we can celebrate these incredible achievements with readers today, but it also throws into sharp contrast the effects that our current, painful funding cuts may have on our ability to make the next big breakthrough.
“Without the continued support of the public we might miss the next ‘ BRCA2- type’ discovery, which could have devastating consequences for cancer patients in the future.”
‘ Spending cuts could prevent the next big breakthrough’