CDKN2A mutations in melanoma families from Uruguay
✍ Scribed by A.L. Borges; F. Cuéllar; J.A. Puig-Butillé; M. Scarone; L. Delgado; C. Badenas; M. Milà; J. Malvehy; V. Barquet; J. Núñez; M. Laporte; G. Fernández; P. Levrero; M. Martínez-Asuaga; S. Puig
- Book ID
- 108670682
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 149 KB
- Volume
- 161
- Category
- Article
- ISSN
- 0007-0963
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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
Germline CDKN2A mutations have been observed in approximately 20 percent of familial melanoma kindreds from North America, Europe and Australasia. There is also an increased risk of pancreatic cancer in a subset of families with mutations, however, the precise relationship between the CDKN2A gene an
## Abstract Approximately 50% of all melanoma families worldwide show linkage to 9p21‐22, 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