Identify the normal functions of the following genes whose mutations are associated with the development of cancer.
p53(Li–Fraumeni syndrome)

Verified step by step guidance

1. Understand that the p53 gene is a tumor suppressor gene, which means its normal function is to regulate the cell cycle and prevent uncontrolled cell division.
2. Recognize that p53 plays a critical role in DNA damage response by either repairing damaged DNA or initiating apoptosis (programmed cell death) if the damage is irreparable.
3. Note that mutations in p53 can lead to loss of its tumor suppressor function, allowing cells with damaged DNA to proliferate, which contributes to cancer development.
4. Connect the mutation of p53 with Li–Fraumeni syndrome, a hereditary disorder characterized by a predisposition to multiple types of cancer due to defective p53 function.
5. Summarize that the normal function of p53 is to maintain genomic stability by controlling cell cycle checkpoints, DNA repair, and apoptosis, thereby preventing tumor formation.

Key Concepts

Tumor Suppressor Genes

Tumor suppressor genes produce proteins that regulate cell growth and division, preventing uncontrolled proliferation. When these genes, like p53, are mutated, their protective function is lost, leading to increased cancer risk. They act as cellular 'brakes' to stop tumor development.

Function of p53 Gene

The p53 gene encodes a protein that monitors DNA integrity and can induce cell cycle arrest, DNA repair, or apoptosis in response to damage. It is often called the 'guardian of the genome' because it prevents propagation of mutated cells, thereby suppressing tumor formation.

Li–Fraumeni Syndrome

Li–Fraumeni syndrome is a hereditary disorder caused by germline mutations in the p53 gene, leading to a high predisposition to various cancers at a young age. Understanding this syndrome highlights the critical role of p53 in cancer prevention and genetic inheritance patterns.