Researchers have shed new light on the most common genetic variant linked to hereditary cancer in Quebec\u2019s French-Canadian population. Their findings could result in cheaper and more effective screening methods.<\/p>\n
The variant is associated with Lynch syndrome, a condition that greatly increases the risk of colorectal and other cancers.<\/p>\n
Using genetic data from the CARTaGENE<\/a> population cohort and genealogical records from the BALSAC database<\/a>, the scholars, led by researchers at McGill University and the Research Institute of the McGill University Health Centre (The Institute), traced the variant back roughly 11 generations to a single ancestor. They estimate that about one in 800 French-Canadians carries the mutation, with higher rates in regions such as Charlevoix, C\u00f4te-de-Beaupr\u00e9, Saguenay\u2013Lac-Saint-Jean, Beauce and C\u00f4te-du-Sud.<\/p>\n The variant, PMS2 c.2117del, was originally discovered in 2008 in several members of a single Quebec family who had Lynch syndrome. What wasn\u2019t known until now was how widespread the variant is across the population, or where it originated.<\/p>\n \u201cThis study shows how clinical data can deepen our understanding of Quebec\u2019s genetic history, and how historical records can clarify current genetic risks,\u201d said senior author Simon Gravel<\/a>, Professor in the Department of Human Genetics at McGill.<\/p>\n