Which of the following genes is primarily associated with MEN1 syndrome?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

MEN1 syndrome, also known as Multiple Endocrine Neoplasia Type 1, is primarily associated with mutations in the MEN1 gene. This gene is responsible for encoding a protein called menin, which plays a critical role in cell proliferation and tumor suppressor functions. Individuals with mutations in the MEN1 gene are predisposed to developing tumors in multiple endocrine glands, including the parathyroid glands, pancreatic islets, and the pituitary gland.

The other genes listed are associated with different conditions. For example, the RET gene is linked to MEN2 syndrome, which involves a different set of tumors. XPA is associated with xeroderma pigmentosum, a condition related to DNA repair deficiencies, and PMS2 pertains to Lynch syndrome (hereditary non-polyposis colorectal cancer). Thus, knowing the specific gene linked to MEN1 syndrome is crucial for accurate diagnosis and management of patients with this condition.

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