CDKN2A (p14ARF) gene

Associated Syndrome Name: Melanoma Cancer Syndrome (MCS)

CDKN2A (p14ARF) Summary Cancer Risk Table

Cancer Genetic Cancer Risk
SkinHigh Risk
PancreaticElevated Risk

CDKN2A (p14ARF) gene Overview

Melanoma Cancer Syndrome (MCS) 1, 2, 3, 4
  • Individuals with CDKN2A (p14ARF) mutations have Melanoma Cancer Syndrome (MCS).
  • Patients with MCS have a high risk of developing melanoma. There are currently no exact estimates of the risk associated with CDKN2A (p14ARF) mutations, but it is believed that melanoma risks are similar to those for patients with a similar condition due to mutations in the CDKN2A (p16INK4a) gene. Those risks are provided below. It is possible that these estimates will change over time as we learn more about the exact risks associated with mutations in CDKN2A (p14ARF).
  • Patients with MCS due to mutations in CDKN2A (p14ARF) may also have a high risk for pancreatic cancer, as a high risk for pancreatic cancer has been observed in some families with mutations in the related gene CDKN2A (p16INK4a). Concern about pancreatic cancer risk should be higher for patients who have a family history of this cancer.
  • Although there is a high risk for melanoma, and possibly pancreatic cancer, in patients with MCS, it may be possible to reduce this risk with appropriate medical management, including increased attention to surveillance and lifestyle modifications. Guidelines from expert groups for the management of patients with increased risks for these cancers are listed below. Since information about the cancer risks associated with CDKN2A (p14ARF) mutations is relatively new, and there is uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics professionals who have expertise in this emerging area of knowledge.

CDKN2A (p14ARF) gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
MelanomaTo age 501, 4, 514%-50%0.3%
To age 801, 4, 528%-76%1.7%
PancreaticTo age 752, 3, 5Elevated risk0.8%

CDKN2A (p14ARF) Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
MelanomaEducation about the importance of skin protection, such as sun avoidance, protective clothing and sunscreen.6, 7InfancyOngoing
Whole-body skin examinations conducted by the patient or family member.6, 710 yearsMonthly
Clinical skin examinations by an appropriately trained provider, with consideration of whole-body photography and close-up photography of atypical nevi for ongoing comparison.6, 710 yearsEvery 6 to 12 months
PancreaticConsider available options for pancreatic cancer screening, including endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in screening for pancreatic cancer, preferably within research protocols.8Age 40, or 10 years younger than the earliest age of pancreatic cancer diagnosis in the familyAnnually
Provide education about ways to reduce pancreatic cancer risk, such as not smoking and losing weight.9IndividualizedIndividualized

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the CDKN2A (p14ARF) gene.

This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.

Since there are screening and preventative measures recommended to begin in infancy or early childhood for individuals with CDKN2A (p14ARF) mutations, consideration should be given to the possibility of mutation testing at young ages.


  1. Begg CB, et al. Genes Environment and Melanoma Study Group. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005 97:1507-15. PMID: 16234564.
  2. Goldstein AM, et al. Melanoma Genetics Consortium (GenoMEL). High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res. 2006 66:9818-28. PMID: 17047042.
  3. Vasen HF, et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000 87:809-11. PMID: 10956390.
  4. Bishop DT, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 94:894-903. PMID: 12072543.
  5. SEER*Explorer: An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program, National Cancer Institute. [Cited 2020 Sep 14]. Available from
  6. Kefford RF et al. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics Consortium. J Clin Oncol. 1999 17:3245-51. PMID: 10506626.
  7. Swetter SM, et al. NCCN Clinical Practice Guidelines in Oncology®: Melanoma: Cutaneous. V 2.2021 Feb 19. Available at
  8. Goggins M, et al. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020 69:7-17. PMID: 31672839.
  9. Tempero MA, et al. NCCN Clinical Practice Guidelines in Oncology®: Pancreatic Adenocarcinoma. V 2.2021. Feb 25. Available at
Last Updated on 21-Apr-2022