By Curtis Olafson, Oliver Sartor, MD, Kara R. (Schoeffel) Rogen, MS, CGC
As a public service, this article has been drafted to raise awareness regarding a gene
mutation that is known to exist in the population of people of Icelandic descent.
Individuals who carry the CDKN2A mutation have a significantly elevated risk of
developing melanoma, pancreatic cancer, and possibly other cancers including head and neck cancers. This mutation is found in 10-25% of families with multiple cases of
melanoma and ~1/1250 Icelandic individuals without a diagnosis of melanoma.
People of Icelandic descent are at elevated risks for developing these specific types of
cancers, and a substantial number of these patients have the Icelandic CDKN2A gene
mutation, which is inherited through families.
There is also an Icelandic gene mutation in the BRCA2 gene. For BRCA2 mutants,
breast, ovarian, pancreatic, and prostate cancer are known to occur.
A personal or family history of cancer, especially of these types, are key signals that genetic testing may be advisable. Specific testing for the CDKN2A and/or BRCA2 gene mutation should be considered.
The first step is to meet with a Certified Genetic Counselor to get a professional recommendation on whether, and how, to get tested. The test involves a simple blood draw. To find a genetic counselor in your area, visit the website www.findageneticcounselor.com
You can also be seen by a counselor in the Department of Clinical Genomics at Mayo Clinic in Rochester, Minnesota. If you have not been a patient at Mayo, you can call 507-284-2111 to register as a new patient. If you have been a patient at Mayo, you can call their appointment line directly at 507-284-8198.
It is important to know that, if you choose to be tested for these gene mutations and the
test is positive, your children and siblings should also be tested. If you test negative,
testing for your children is not necessary. Anyone of Icelandic descent who is aware of
multiple cancers previously herein mentioned that have been diagnosed in relatively close family members should consider being tested. It is possible for siblings of a person who tested negative to carry the gene mutations and test positive. This knowledge is important for future generations in your family.
Recommendations for those who test positive are biannual comprehensive examinations for melanoma by a dermatologist, supplemented with total body photography and dermoscopy. Annual screenings for pancreatic cancers by MRI and/or endoscopy procedures can also be considered but should be done in a high-volume clinic under the guidance of an experienced medical professional. Not using tobacco in any form (smoking or chewing) is always a good recommendation for those concerned about cancer risk.
Additional information can be found at:
www.cagc-accg.ca For residents of Canada
Drafted and submitted by Curtis Olafson, President, Icelandic Communities Association,
Mountain, North Dakota
This article was reviewed and approved by:
Oliver Sartor, MD,
Chief, Genitourinary Cancers Disease Group
Director, Radiopharmaceutical Trials at Mayo Clinic, Rochester, MN
And by:
Kara R. (Schoeffel) Rogen, MS, CGC
Licensed, Certified Genetic Counselor
Department of Clinical Genomics
Clinical Instructor of Medical Genetics at Mayo Clinic, Rochester, MN
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