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One of his early discoveries centered on the “founder effect,” in which a population established by a small number of individuals has less genetic variation. This principle helped reveal the genetic roots of conditions that are disproportionately common in the Finnish population.
In later years, de la Chapelle began researching Lynch syndrome, a hereditary condition that raises one’s risk of developing colorectal cancer, as well as several other cancer types. His work helped identify four mismatch repair genes that lead to the condition; contributed to the development of a microsatellite instability test used to screen for Lynch syndrome; and led to the recommendation that patients diagnosed with colorectal cancer should be screened for Lynch syndrome. His work also contributed to the establishment of the Ohio Colorectal Cancer Prevention Initiative.
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