Which gene mutation is associated with MEN type 2a?

Study for the USMLE Step 2 CK Exam. Prepare with flashcards and multiple choice questions, each question has hints and explanations. Get ready for your exam!

MEN type 2a, also known as multiple endocrine neoplasia type 2a, is primarily associated with mutations in the RET proto-oncogene. This condition is characterized by a predisposition to developing medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism. The RET gene plays a crucial role in cell signaling pathways that regulate cell growth and differentiation, and mutations can lead to the uncontrolled cell proliferation seen in these tumors.

The correlation between the RET gene and MEN type 2a is well established in genetic studies and clinical practice, as individuals with this mutation can be screened effectively for the related endocrine neoplasms. Recognizing this genetic link allows for early intervention, potentially improving patient outcomes by enabling proactive monitoring or surgical options if warranted.

Other options listed include genes associated with different syndromes or conditions unrelated to MEN type 2a. Understanding the specific genetic underpinnings of endocrine neoplasia syndromes helps differentiate them and manage associated risks efficiently.

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