Abstract
Background Colorectal cancer is the fourth most common type of cancer and the second most common cause of cancer death. Approximately 5% of colon cancers arise in the presence of a clear hereditary cancer condition; however, current estimates suggest that an additional 15-25% of colorectal cancers arise on the basis of unknown inherited factors. Association studies report several low-penetrance genetic variants associated with colon cancer risk. Large families, whereby precise inheritance can be correlated with phenotype, offer another approach to identify moderately penetrant genes and to isolate responsible genetic loci and mutations. The aim of this study was to identify additional genetic factors responsible for colon cancer using large multigenerational pedigrees with excess colorectal cancer.
Highlights
Colorectal cancer is the fourth most common type of cancer and the second most common cause of cancer death
5% of colon cancers arise in the presence of a clear hereditary cancer condition; current estimates suggest that an additional 15-25% of colorectal cancers arise on the basis of unknown inherited factors
Association studies report several lowpenetrance genetic variants associated with colon cancer risk
Summary
Colorectal cancer is the fourth most common type of cancer and the second most common cause of cancer death. 5% of colon cancers arise in the presence of a clear hereditary cancer condition; current estimates suggest that an additional 15-25% of colorectal cancers arise on the basis of unknown inherited factors. Association studies report several lowpenetrance genetic variants associated with colon cancer risk. Whereby precise inheritance can be correlated with phenotype, offer another approach to identify moderately penetrant genes and to isolate responsible genetic loci and mutations. The aim of this study was to identify additional genetic factors responsible for colon cancer using large multigenerational pedigrees with excess colorectal cancer
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