Which gene mutation is most commonly associated with familial atypical multiple mole melanoma syndrome?

Prepare for the ABGC Boards Exam. Study with interactive quizzes, flashcards, and detailed explanations. Enhance your understanding and excel in your certification exam!

The gene mutation most commonly associated with familial atypical multiple mole melanoma (FAMMM) syndrome is CDKN2A. This gene plays a crucial role in regulating the cell cycle, particularly in controlling the transition from the G1 phase to the S phase. Mutations in CDKN2A can lead to dysregulation of cell growth and division, which increases the risk of developing melanoma, particularly in families with a history of multiple moles and melanoma.

FAMMM syndrome is characterized by the presence of atypical moles, an increased number of nevi (moles), and a strong family history of melanoma. The discovery of CDKN2A mutations in individuals with this syndrome has highlighted its significance in hereditary melanoma predisposition. Furthermore, research has shown that individuals carrying mutations in CDKN2A have a significantly higher risk of developing melanoma compared to the general population.

In the context of this question, understanding the role of CDKN2A in melanoma biology and its association with familial risk factors is vital for genetic counseling and potential management strategies for affected families.

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