Mutations in the CDKN2A ( p16INK4a ) gene in microdissected sporadic primary melanomas
نویسندگان
چکیده
منابع مشابه
CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.
Germ-line CDKN2A mutations are present in some kindreds with hereditary cutaneous melanoma, and in Sweden a founder mutation with an extra arginine in codon 113 (113insR) has been identified. We screened 80 individuals with at least two primary cutaneous melanomas, who were identified mainly by a search of a regional cancer registry, for germ-line CDKN2A mutations. In nine patients, CDKN2A alte...
متن کاملCDKN2A mutation and deletion status in thin and thick primary melanoma.
Human melanoma cell lines and tumor tissue from familial and sporadic melanomas have frequent, nonrandom chromosomal breaks and deletions on chromosome 9p21, a region that includes the tumor suppressor gene CDKN2A/p16INK4A. Germ-line mutations within this gene have been observed in some familial melanoma kindreds, but somatic mutation in sporadic primary melanoma is infrequent. Thirty-nine arch...
متن کاملAnalysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population.
Mutations in CDKN2A have been found in sporadic cutaneous malignant (CMM), in familial CMM and in other syndromes associated with melanoma. In this study DNA was obtained from 207 individuals and five cell lines. There were 157 CMM patients and 50 healthy members of melanoma patients families. The CMM group included patients with one or two melanoma cases in the family, families with dysplastic...
متن کاملCDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene. In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families, an...
متن کاملRe: Determinants of BRAF mutations in primary melanomas.
I read with interest the paper by Maldonado et al. ( 1 ) investigating the distribution of BRAF mutations across different melanoma types. One of the questions addressed by the authors was whether cutaneous melanomas with a BRAF mutation arose from preexisting melanocytic nevi. In an analysis of 46 lesions, they found melanomas with an associated nevus to have only a slightly higher prevalence ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Cancer
سال: 1998
ISSN: 0020-7136,1097-0215
DOI: 10.1002/(sici)1097-0215(19980119)75:2<193::aid-ijc5>3.0.co;2-p