Asian women with late-stage lung cancer in Metro Vancouver are now routinely tested for a genetic mutation that can improve their treatment. Its a made-in-B.C. adaptation of international genetic research that has found a high proportion of Asian women with lung cancer have never smoked. They carry a particular genetic makeup that drives tumour growth yet also responds to a line of drugs called tyrosine kinase inhibitors, or TKIs. The treatment wont eradicate cancer, but can prolong lives, said Dr. Barbara Melosky, a researcher at the BC Cancer Agency and professor of medicine at the University of British Columbia. People have been talking about targeted therapy for 10 years, but we actually found one that works very well with lung cancer. Although we cannot cure these patients, many of them live years, rather than months. About 10 to 20 per cent of all lung cancer patients carry a mutated epidermal growth factor receptor gene that speeds tumour growth. That number rises to about 40 per cent among all East Asians with non-small-cell lung cancer, the most common type. Among non-smoking East Asian women from China, Japan, Taiwan and Korea, it rises to between 60 and 80 per cent. There were … Continue reading →

TORONTO - A large international study has identified a gene mutation that increases the risk of developing a common and potentially fatal condition called aortic valve disease. The work pinpoints a mutation on a gene responsible for the production of a type of cholesterol known as lipoprotein(a) or Lp(a). The lead author, Dr. George Thanassoulis of McGill University in Montreal, says the mutation is found in about 13 per cent of people of European descent. It occurs to a lesser degree in people of African-American and Hispanic ethnicity, but is barely seen in people of Chinese-American ancestry. Thanassoulis says researchers were able to show that the mutation was the number one genetic risk factor for the disease, and that it was the circulating Lp(a) in the blood that was causing the valve disease in the people studied. About a million people in North America suffer from aortic stenosis, which is the hardening of the valve through which blood leaves the heart. People with the condition develop shortness of breath and angina, and can go on to have heart attacks. There is currently no remedy, except surgery to replace the valve. But by the time the condition is spotted, patients are … Continue reading →

A genetic variation doubles the risk of developing calcium deposits in the heart, a common condition that, in severe cases, can narrow or block the aorta, according to a study published Wednesday. The genetic variation, found in seven percent of the population, provides important clues about how to treat the disease, researchers said in the study published in the New England Journal of Medicine. "This is an important step forward in understanding the biology of the development of aortic stenosis," said senior author Wendy Post, from the Johns Hopkins University School of Medicine. She added that the latest findings could lead to the development of targeted medications to slow the progression of the disease, which can cause chest pain and shortness of breath, and can in some cases require surgery. The gene in question is involved in the production of a type of cholesterol particle called lipoprotein (a), which circulates in the blood. "Increased levels of lipoprotein (a) have been previously associated with aortic valve disease. However, prior studies could not differentiate whether it was simply a marker or a causal factor," said lead author Catherine Campbell, of Kaiser Permanente. "Our results provide the first evidence for a causal relationship," … Continue reading →

A GENETIC variation doubles the risk of developing calcium deposits in the heart, a common condition that, in severe cases, can narrow or block the aorta. The genetic variation, found in seven per cent of the population, provides important clues about how to treat the disease, researchers said in a study published on Wednesday in the New England Journal of Medicine. "This is an important step forward in understanding the biology of the development of aortic stenosis," said senior author Wendy Post, from the US Johns Hopkins University School of Medicine. She added that the latest findings could lead to the development of targeted medications to slow the progression of the disease, which can cause chest pain and shortness of breath, and can in some cases require surgery. The gene in question is involved in the production of a type of cholesterol particle called lipoprotein (a), which circulates in the blood. "Increased levels of lipoprotein (a) have been previously associated with aortic valve disease. However, prior studies could not differentiate whether it was simply a marker or a causal factor," said lead author Catherine Campbell, of Kaiser Permanente. "Our results provide the first evidence for a causal relationship," she added. … Continue reading →

Feb. 6, 2013 Researchers have found a genetic variant that doubles the likelihood that people will have calcium deposits on their aortic valve. Such calcification, if it becomes severe, can cause narrowing or a blockage of the aortic valve, a condition called aortic stenosis. The study is the first large-scale, genome-wide association study to uncover a genetic link to aortic valve calcification. An article detailing the findings is published in the February 7, 2013 issue of The New England Journal of Medicine. The study's lead investigators -- from Johns Hopkins, Harvard University, McGill University, the University of Iceland and the National Institutes of Health -- found that having a genetic variant in the LPA gene, which codes for a type of cholesterol particle called lipoprotein (a), also increases the risk of developing aortic stenosis by more than 50 percent. The researchers say their findings not only help explain why heart valve calcification may run in families, they could also lead to the development of targeted medications that might slow the progression of the disease. Statin medications, which reduce common forms of cholesterol that can clog blood vessels, have not been shown to reduce aortic valve calcification. "This is an important … Continue reading →