Novel CDKN2A mutation detected in Spanish melanoma pedigree
نویسندگان
چکیده
منابع مشابه
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.
PURPOSE We report the largest study to date analyzing the risk of cancers other than melanoma in melanoma families positive for the same CDKN2A mutation. EXPERIMENTAL DESIGN We studied family members of 22 families positive for the p16-Leiden founder mutation who had attended a surveillance clinic or were their close relatives. Within this cohort, observed and expected rates of cancer were co...
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 کاملA deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.
Germline mutations of CDKN2A at 9p21 have been shown to predispose to disease in melanoma pedigrees worldwide. However, there remains a significant proportion of melanoma pedigrees with evidence of linkage to 9p21 in which mutations in CDKN2A have not been detected. Investigation of other potential tumour suppressor genes at 9p21 and the promotor of CDKN2A has been unable to explain genetic pre...
متن کاملLifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
BACKGROUND Germline mutations in the CDKN2A gene have been linked to melanoma incidence in many families with multiple cases of the disease. Previous studies of multiple-case families have indicated that the lifetime risk (i.e., penetrance) of melanoma in CDKN2A mutation carriers is very high, ranging from 58% in Europe to 91% in Australia by age 80 years. In this study, we examined lifetime me...
متن کاملRisk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers.
The purpose of this study was to quantify the risk of cancers other than melanoma among family members of CDKN2A mutation carriers using data from the Genes, Environment and Melanoma study. Relative risks (RRs) of all non-melanoma cancers among first-degree relatives (FDRs) of melanoma patients with CDKN2A mutations (n = 65) and FDRs of melanoma patients without mutations (n = 3537) were calcul...
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ژورنال
عنوان ژورنال: Experimental Dermatology
سال: 2009
ISSN: 0906-6705,1600-0625
DOI: 10.1111/j.1600-0625.2009.01048.x