What genetic mutation is associated with Li Fraumeni syndrome?

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Li-Fraumeni syndrome is primarily associated with mutations in the TP53 gene, which encodes the p53 tumor suppressor protein. This protein plays a crucial role in regulating the cell cycle, maintaining genomic stability, and preventing tumor development by inducing apoptosis in cells that exhibit DNA damage or abnormal growth.

Individuals with Li-Fraumeni syndrome have an increased risk of developing various types of cancer, including breast cancer, soft tissue sarcomas, brain tumors, and adrenal cortical carcinomas, often at young ages. The connection between p53 mutations and this syndrome underscores the importance of the gene in cancer prevention and the control of cell proliferation.

The other choices mentioned are associated with different genetic conditions. The APC gene is linked to familial adenomatous polyposis, a condition leading to colorectal cancer. The BRCA1 gene is primarily associated with hereditary breast and ovarian cancers. While both BRCA1 and APC play significant roles in cancer predisposition, they are not involved in Li-Fraumeni syndrome, which is specifically tied to mutations in the TP53 gene.

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