Mutation in p53 gene is associated with which malignancy?
**Core Concept**
The p53 gene is a tumor suppressor gene that plays a crucial role in regulating cell growth, DNA repair, and apoptosis. Mutations in the p53 gene can lead to the loss of its normal function, resulting in uncontrolled cell growth and cancer.
**Why the Correct Answer is Right**
The p53 gene is often referred to as the "guardian of the genome" due to its role in maintaining genomic stability. Mutations in p53 have been implicated in a wide range of cancers, including Li-Fraumeni syndrome, a rare genetic disorder characterized by a high risk of developing multiple types of cancer. The most common malignancy associated with p53 mutations is **glioblastoma**, a type of brain cancer that is highly aggressive and resistant to treatment.
**Why Each Wrong Option is Incorrect**
**Option A:** While mutations in the BRCA1 and BRCA2 genes are associated with breast and ovarian cancer, they are not directly related to p53 mutations.
**Option B:** Although p53 mutations can contribute to the development of colon cancer, they are not the primary genetic alteration associated with this malignancy.
**Option C:** Mutations in the HER2 gene are associated with breast cancer, but they are not directly related to p53 mutations.
**Clinical Pearl / High-Yield Fact**
The Li-Fraumeni syndrome is a rare genetic disorder that is characterized by a high risk of developing multiple types of cancer, including breast cancer, brain tumors, and sarcomas. Patients with Li-Fraumeni syndrome often have germline mutations in the p53 gene, which can be detected through genetic testing.
**Correct Answer: C. Glioblastoma**