A FORMER Bleary woman has led a team of researchers in America in identifying several genes that may be linked to one of the most lethal forms of uterine cancer - serous endometrial cancer.
Dr Daphne Bell - originally from Ballydougan - is in charge of the research team, at the National Human Genome Research Institute, National Institutes of Health (NIH) just outside Washington DC. Her team’s discovery of the ‘rogue’ genes has been hailed in the States, where each year about 47,000 women are diagnosed with uterine cancer and about 8,000 women die from the disease.
The research has discovered genes that are frequently altered in the disease, suggesting that these genes drive the development of the tumours. “Serous endometrial tumours can account for as much as 39 percent of deaths from endometrial cancer,” said Dr Bell, the lead author of the paper reporting the research and head of the reproductive cancer genetics section at the National Human Genome Research Institute, NIH.
Dr Bell’s team began their study by examining tumour tissue and matched normal tissue from 13 patients with serous endometrial cancer. Using state-of-the art technologies, they filtered through millions of data points to locate genetic alterations, or mutations that were present in the genes within the tumour samples but absent from the genes in the matched normal samples.
“When you identify a set of mutations, they could either be drivers that have caused the cancer or incidental passengers that are of no consequence. Our goal is to identify the drivers,” Dr. Bell explained.
“One way to do this is to home in on genes that are mutated in more than one tumour, because we know from experience that frequently mutated genes are often driver genes. Three of the mutated genes the researchers found are frequently altered in the disease, suggesting that these genes may drive the development of tumours. This discovery really changes our understanding of some of the genetic alterations that may contribute to this disease.”
She added the findings are limited by the small number of tumours and it was too early to make a direct connection between their findings and prospects for treatments for this aggressive form of uterine cancer.
Dr Bell began her education at Bleary Primary School, and from there she went to Killicomaine JHS and then to Portadown College. She completed her Bachelor’s degree in genetics and zoology and her PhD in biology and biochemistry at Queen’s University in Belfast, and went to America in 1993 where she conducted postdoctoral research at the Fox Chase Cancer Centre in Philadelphia.
From 1997 to 2006, she served as assistant professor of medicine at Harvard Medical School and Massachusetts General Hospital in Boston. In 2006, she took up her present post with the National Human Genome Research Institute at National Institutes of Health, driving the vital research reported in the present study.
She is the daughter of Carter and June Bell who still live in Ballydougan.