- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
- Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
- MUTYH-associated Polyposis syndrome (MAP)
- MUTYH-associated Colon Cancer Risk
- Melanoma Cancer Syndrome (MCS)
- Li-Fraumeni Syndrome (LFS)
- PTEN Hamartoma Tumor syndrome (PHTS)
- Peutz-Jeghers Syndrome
- Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
- PALB2-associated Cancer Risk
- CHEK2-associated Cancer Risk
- ATM-associated Cancer Risk
- NBN-associated Cancer Risk
- BARD1-associated Cancer Risk
- BRIP1-associated Cancer Risk
- RAD51C-associated Cancer Risk
- RAD51D-associated Cancer Risk
- Polymerase Proofreading-associated Syndrome (PPAS)
- Hereditary Mixed Polyposis Syndrome (HMPS)
Melanoma Cancer Syndrome (MCS) CDKN2A ASSOCIATED CANCER RISKS
Melanoma Cancer Syndrome (MCS)
CDKN2A ASSOCIATED CANCER RISKS
What does it mean to have a CDKN2A (p14ARF) or CDK4 gene mutation, and a diagnosis of Melanoma Cancer Syndrome (MCS)?
People with mutations in the CDKN2A (p14ARF) or CDK4 gene have a condition called Melanoma Cancer Syndrome (MCS). People with MCS have a high risk for melanoma. These melanomas often occur at young ages, and it is not unusual for a person with MCS to develop melanoma two or more times during their lifetime.
It is known that mutations in the CDKN2A gene can affect the formation of two different types of proteins. CDKN2A (p16INK4a) mutations can cause a high risk for pancreatic cancer as well as melanoma. People with mutations in the related gene CDK4 may also have a high risk for pancreatic cancer as well as melanoma. It is possible that this risk for pancreatic cancer also applies to some people with mutations in CDKN2A (p14ARF) or CDK4. The possibility of an increased risk for pancreatic cancer is a more serious concern for people who have a family history of pancreatic cancer in one or more relatives.
MCS was once known as Familial Atypical Multiple Mole Melanoma syndrome (FAMMM). That name is no longer used because multiple moles are no longer thought to be a common symptom of this condition.
What can be done to protect people with MCS from cancer and other health problems?
The National Comprehensive Cancer Network (NCCN) and the Melanoma Genetics Consortium provide recommendations for lowering the risk of melanoma which apply to people with MCS. These include warning people to be extra cautious about sun exposure, beginning early in childhood. People with MCS should also inspect their own skin for suspicious moles frequently, with help from family members. They should also have regular skin inspections by trained healthcare professionals.
At this time, there are no recommendations for pancreatic cancer screening in people with MCS. However, people with mutations in CDKN2A (p14ARF) or CDK4 who also have a history of pancreatic cancer in their family may want to discuss this with their healthcare providers. At this time, pancreatic cancer screening is considered experimental and may only be available as part of a research study.
Since MCS is still considered to be a relatively rare condition and the best ways to prevent melanoma are still being studied, it is recommended that people with mutations in the CDKN2A (p14ARF) or CDK4 gene be cared for by healthcare professionals with experience in treating this condition.
Additional details about CDKN2A (p14ARF) or CDK4 gene mutations and MCS, specific recommendations for medical care, and useful information for relatives of people who have a diagnosis of MCS, are available within our Support Organizations pages.
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