A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families
2001
Common CDKN2A Mutation in Melanoma Families
Sample size: 7
publication
Evidence: moderate
Author Information
Author(s): Goldstein A M, Liu L, Shennan M G, Hogg D, Tucker M A, Struewing J P
Primary Institution: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
Hypothesis
Is there a common ancestor for the V126D CDKN2A mutation in melanoma-prone families?
Conclusion
The V126D mutation in CDKN2A likely originated from a common ancestor in seven North American melanoma-prone families.
Supporting Evidence
- The V126D mutation is one of the most common melanoma-related mutations in North America.
- All seven families studied had a haplotype consistent with a common ancestor for the mutation.
- The mutation appears to have originated 34–52 generations ago.
Takeaway
Some families with melanoma share a common genetic change that started a long time ago.
Methodology
Examined nine markers surrounding CDKN2A in three American and four Canadian families.
Participant Demographics
Seven North American melanoma-prone families.
Statistical Information
Confidence Interval
13–98 generations
Digital Object Identifier (DOI)
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