Research on family from 1630s shows importance of cancer screening
US scientists believe that their genetic studies tracing a family right back to the 1630s have underlined the benefits of cancer screening.
Researchers have been investigating the descendants of Mr and Mrs George Fry who arrived in the New World in the 1630s, bringing with them a genetic mutation that increases the likelihood of bowel cancer.
Hundreds of their 7,000 descendants have faced an increased risk of bowel cancer over the years as a result of this mutation but, thanks to research on the gene in question, screening and education can now help to protect people with this faulty gene against the disease.
A new report on the couple and their descendants was presented to the American Chemical Society on March 25th by researchers at the University of Utah.
The team have used cancer records and a massive genealogic archive called the Utah Population Database (UPDB) to trace the faulty gene - which causes a condition called attenuated familial adenomatous polyposis (AFAP) - in around 200 of Mr and Mrs Fry's descendents.
AFAP causes the growth of bowel polyps which are often benign but can sometimes become cancerous.
People with the inherited condition face a two-in-three risk of developing bowel cancer. In contrast, people without the faulty gene face a one-in-24 risk of developing the disease.
Research into the descendants of the Fry family has already helped to prevent a number of cases of bowel cancer as living relatives can now be screened for the gene.
Those found to have inherited the gene can receive regular bowel screening so that any signs of disease can be treated at an early stage.
Researcher Dr Deb Neklason commented: "Our work demonstrates that colon (bowel) cancer can be prevented with proper screening and care. Aggressive education and clinical intervention over a seven-year window in the Utah family has already prevented seven colon cancers."
Dr Neklason said that the research could have an impact on many people.
"We ran some numbers and if this mutation accounted for just 0.1 per cent of all of the colon cancers in the US, that would equal 150 cases a year and cost about $7.5 million (£5.15 million) per year to treat," she revealed, adding that this is a conservative estimate.
The researchers have so far identified 15 families with the faulty gene who appear to be related and believe there may be thousands more people at risk of inheriting the gene.
In addition, they found that people with the gene were more likely to develop bowel cancer if they ate a high-fat diet and were obese, whereas a high intake of oily fish, bananas, calcium, aspirin and caffeine appeared to partially reduce their risk.
Oliver Childs, science information officer at Cancer Research UK, said the research gave a fascinating glimpse into a family's medical history, and could have implications for screening, prevention and treatment of bowel cancer.
"It's a great real life example of how screening for bowel cancer can save lives, particularly in families who are already known to carry gene faults that increase the risk of developing the disease.
"If it is caught early then treatment for bowel cancer is likely to be more effective. In the UK, bowel cancer screening is predicted to save over two and a half thousand lives every year by 2025. "
The team are now continuing to identify people with the AFAP mutation so that they can advise them on how to reduce their risk of bowel cancer.