Is colorectal cancer a genetic disease? Experts tell us that the vast majority of colorectal cancers are sporadic, but about 10% to 15% of colorectal cancers have a genetic background, of which familial adenomatous polyposis (FAP) accounts for about 1% to 2%, hereditary non-polyposis colorectal cancer (HNPCC) accounts for about 2% to 7%, and others include Peutz-Jeghers disease (PJS) and juvenile polyposis. People who have relatives with colorectal cancer have a 3-4 times greater risk of developing the disease than ordinary people. If there are two or more close relatives (parents or siblings) with colorectal cancer in the family, they are at high risk of colorectal cancer. Because colorectal cancer clusters in families, 10%-15% of colorectal cancer occurs in first-degree relatives (including parents, siblings, and children) with colorectal cancer. Genetic risk: ★★★FAP is caused by mutations in the APC gene, which is located at 5q21-22 and is a tumor suppressor gene with many mutations. The most common APC gene mutation is a change in the gene sequence that causes the termination codon to appear prematurely, producing a non-functional truncated protein. More than 80% of FAP patients can detect mutated APC genes, but about 20% of patients fail to find mutations in the APC gene using existing genetic testing technology. In addition to patients with colorectal cancer caused by familial polyposis or malignant transformation of ulcerative colitis, about 5-10% of other colorectal cancer patients have a clear family history of tumors, collectively referred to as hereditary nonpolyposis colorectal cancer (Hereditary Nonpolyposis Colorectal Cancer, HNPCC), also known as Lynch syndrome. |
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