Renal cell carcinoma is related to gene located on chromosome –
**Core Concept**
Renal cell carcinoma (RCC) is a type of kidney cancer that arises from the renal epithelium. It is a complex disease with a multifactorial etiology, involving genetic and environmental factors. The genetic basis of RCC has been extensively studied, revealing several key mutations that contribute to its development.
**Why the Correct Answer is Right**
The VHL gene, located on the short arm of chromosome 3 (3p25-26), is a tumor suppressor gene that plays a crucial role in the pathogenesis of RCC. Mutations in the VHL gene lead to the accumulation of hypoxia-inducible factor-alpha (HIF-alpha), which in turn activates the transcription of genes involved in angiogenesis, cell proliferation, and survival. This results in the formation of RCC. Other genes, such as MET, VEGFA, and BAP1, are also implicated in RCC development, but the VHL gene is a key driver of the disease.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because the VHL gene is not located on chromosome 1.
* **Option B:** This option is incorrect because the TSC1 gene is associated with tuberous sclerosis complex, a different genetic disorder.
* **Option C:** This option is incorrect because the BRCA2 gene is associated with breast and ovarian cancer, not RCC.
* **Option D:** This option is incorrect because the TP53 gene is a tumor suppressor gene involved in a wide range of cancers, but it is not specifically associated with RCC.
**Clinical Pearl / High-Yield Fact**
The VHL gene is a classic example of a tumor suppressor gene that, when mutated, can lead to cancer development. Understanding the molecular mechanisms underlying RCC can inform the development of targeted therapies, such as sunitinib and pazopanib, which inhibit angiogenesis and cell proliferation.
**Correct Answer:** C. 3.