Screening of Germline Mutations in the CDKN2A and CDKN2B Genes in Swedish Families With Hereditary Cutaneous Melanoma
نویسندگان
چکیده
منابع مشابه
Epigenetic mutations in CDKN2A in western Swedish families with hereditary malignant melanoma.
This study aimed to identify the molecular genetic variations associated with an increased risk of hereditary malignant melanoma (HMM) in the western Swedish population. In 68 families with increased hereditary susceptibility to malignant melanoma, we previously reported a low frequency of alterations in the CDKN2A gene, which is regarded as the major melanoma predisposition gene. Among these a...
متن کاملHigh prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.
AIM To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families. METHODS From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history. RESULTS Five distinct mutations were detected in 5 out of ...
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 کاملTelomere Length and the Risk of Cutaneous Malignant Melanoma in Melanoma-Prone Families with and without CDKN2A Mutations
INTRODUCTION Recent evidence suggests a link between constitutional telomere length (TL) and cancer risk. Previous studies have suggested that longer telomeres were associated with an increased risk of melanoma and larger size and number of nevi. The goal of this study was to examine whether TL modified the risk of melanoma in melanoma-prone families with and without CDKN2A germline mutations. ...
متن کاملCDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
BAP1 germline mutations predispose to a cancer predisposition syndrome that includes mesothelioma, cutaneous melanoma, uveal melanoma and other cancers. This co-occurrence suggests that these tumors share a common carcinogenic pathway. To evaluate this hypothesis, we studied 40 Italian families with mesothelioma and/or melanoma. The probands were sequenced for BAP1 and for the most common melan...
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ژورنال
عنوان ژورنال: JNCI Journal of the National Cancer Institute
سال: 1997
ISSN: 0027-8874,1460-2105
DOI: 10.1093/jnci/89.10.697