Mutation Screening of CHD5 in Melanoma-Prone Families
Author Information
Author(s): Ng David, Yang Xiaohong R, Tucker Margaret A, Goldstein Alisa M
Primary Institution: Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
Hypothesis
Is CHD5 a major melanoma susceptibility gene in families linked to 1p36?
Conclusion
There is no evidence to support CHD5 as a major melanoma susceptibility gene among the eight CMM/DN families screened.
Supporting Evidence
- Eight unrelated CMM/DN families were screened for CHD5 mutations.
- Single nucleotide polymorphisms were found, but none co-segregated with the disease.
- The I1117M variant was inherited from an unaffected parent.
Takeaway
The study looked for mutations in a gene called CHD5 in families with a history of melanoma, but they didn't find any that could explain the disease.
Methodology
Sequencing of CHD5 coding exons and intron-exon boundaries in affected and unaffected individuals from eight CMM/DN families.
Limitations
Small sample size and limited to coding regions and flanking splice sites.
Participant Demographics
All study subjects are of Caucasian descent.
Digital Object Identifier (DOI)
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