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P 16 mutation in melanoma and pancreatic cancer

Posted Sep 14 2010 11:22am

Approximately 6-12% of melanoma cases are hereditary, and may have a strong link to the development of pancreatic cancer. The gene responsibel for this type of melanoma is autosomal dominant and located on chromosome 9p21. This gene, called p16 (also known as CDKN2A, INK4A, or MTS1), accounts for up to 40% of hereditary melanoma cases. It is a tumor suppressor gene involved in regulating cell growth.

Currently, identification of teh P16 gene is not clinically significant. All individuals considered at high risk for melanoma should be managed similarly regardless of p16 mutation status. Individuals at increased risk for melanoma should be identified. Family history information should be obtained from all individuals with melanoma or dysplastic nevi, and first-degree relatives should be screened because of the increased risk of CMM in melanoma-prone families in any case. These individuals should be educated about sun protection, avoidance of intense sun exposure, and other preventive measures, such as learning how to detect dysplastic nevi characteristics and melanoma warning signs.

Management recommendations also include examination of the entire skin surface by a skilled healthcare provider every 6 months from 10 years, or earlier for suspicious nevi, until nevi are stable and annually thereafter.

Similarly there are no guidelines that recommend pancreatic cancer screening based on identification of the p 16 mutation.


http://www.moffitt.org/moffittapps/ccj/v4n1/department2.html (Guidelines)

Tsao H, Atkins MB, Sober AJ. Management of cutaneous melanoma. N Engl J Med. 2004;351:998-1012.

Parker JF, Florell SR, Alexander A, DiSario JA, Shami PJ, Leachman SA.
Pancreatic carcinoma surveillance in patients with familial melanoma. Arch Dermatol. 2003 Aug;139(8):1019-25.

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