2000
DOI: 10.1001/archderm.136.9.1118
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Low Prevalence of Germline CDKN2A and CDK4 Mutations in Patients With Early-Onset Melanoma

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Cited by 72 publications
(44 citation statements)
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“…To date, p16 INK4a germline mutations were characterised in only two out of 55 MM patients less than 30 years, but that both had a history of familial melanoma (Whiteman et al, 1997;Tsao et al, 2000). Together with our data, this shows that the INK4a-ARF gene is rarely involved in genetic predisposition to melanoma in young patients with no familial history of melanoma.…”
Section: Discussionsupporting
confidence: 71%
“…To date, p16 INK4a germline mutations were characterised in only two out of 55 MM patients less than 30 years, but that both had a history of familial melanoma (Whiteman et al, 1997;Tsao et al, 2000). Together with our data, this shows that the INK4a-ARF gene is rarely involved in genetic predisposition to melanoma in young patients with no familial history of melanoma.…”
Section: Discussionsupporting
confidence: 71%
“…Then 40 g of protein (assayed with the Bio-Rad protein reagent) from each extract was separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis with precast, 4 to 20% gradient polyacrylamide gels (Bio-Rad). Gels were electrotransferred to nitrocellulose paper, and proteins were detected with antibodies specific for p16 INK4A exon 2 was performed as described previously (68). DNA from 3 ϫ 10 5 to 1.5 ϫ 10 6 cells was isolated with the Qiagen DNeasy tissue kit (Qiagen Inc., Valencia, Calif.).…”
Section: /P14mentioning
confidence: 99%
“…In a study of children aged less than 15 years with melanoma only 1/31 cases tested carried a CDKN2A mutation and this individual had a strong family history of melanoma (Whiteman et al, 1997). Similarly, screening of a cohort of 147 adolescents aged 15-19 years with melanoma found mutations in only two cases (Youl et al, 2002), and in a clinic-based series of melanoma cases younger than 40 years of age, 1/49 patients was found to carry a mutation and this individual had a very strong family history of the disease (Tsao et al, 2000). In another group that one would expect to be more genetically predisposed to melanoma, namely cases that have developed more than one primary tumour, the mutation frequency has also proved to be relatively low.…”
Section: Cdkn2amentioning
confidence: 99%