Population-Based Prevalence of CDKN2A Mutations in Utah Melanoma Families
β Scribed by Eliason, Mark J; Larson, April A; Florell, Scott R; Zone, John J; Cannon-Albright, Lisa A; Samlowski, Wolfram E; Leachman, Sancy A
- Book ID
- 110049173
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 103 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0022-202X
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## Abstract The presence of multiple primary cutaneous melanomas (MPM) has been advocated as guidance to identifying melanoma families. Frequencies of __CDKN2A__ mutations in materials of sporadic MPM cases from pigmented lesion clinics vary between 8 and 15%. Patients with MPM have therefore been
Germline mutations of CDKN2A, at 9p21, are responsible for predisposition to melanoma in some families. However, evidence of linkage to 9p21 has been demonstrated in a significant proportion of kindreds with no detectable mutations in CDKN2A. It is possible that mutations in noncoding regions may be
## Abstract Approximately 50% of all melanoma families worldwide show linkage to 9p21β22, but only about half of these have been shown to contain germ line __CDKN2A__ mutations. It has been hypothesized that a proportion of these families carry mutations in the noncoding regions of __CDKN2A.__ Seve