ArticleEuropean journal of cancer (Oxford, England : 1990)2008
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Article in European journal of cancer (Oxford, England : 1990), 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity.The Journal of clinical endocrinology and metabolism · 2021Article
- FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.Familial cancer · 2021Article
- Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.Journal of the American Academy of Dermatology · 2019Article
- Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.The Journal of investigative dermatology · 2017Article
- Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report.BMC cancer · 2017Article
- Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families.The Journal of investigative dermatology · 2016Article
- MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.British journal of cancer · 2015Article
- Inherited variation in the PARP1 gene and survival from melanoma.International journal of cancer · 2014Article
- Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.Hereditary cancer in clinical practice · 2014Article
- Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.The Journal of investigative dermatology · 2014Article
- Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study.Pigment cell & melanoma research · 2012Article
- Genetics of melanoma.Frontiers in genetics · 2012Article
- Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.Journal of medical genetics · 2011Article
- A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds.The Journal of investigative dermatology · 2011Article
- Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.Journal of the National Cancer Institute · 2010Article
- Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2010Article
- Genetic risk factors for melanoma.Human genetics · 2009Review
Corrections and comments
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Authors and funding
24 authors at 13 institutions in 6 countries.
Funding
Abstract
CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more case families have identified mutations. A comparison of mutation detection rates was carried out by "blind" exchange of samples across GenoMEL, the Melanoma Genetics Consortium, to establish the false negative detection rates. Denaturing high performance liquid chromatography (DHPLC) screening results from 451 samples were compared to screening data from nine research groups in which the initial mutation screen had been done predominantly by sequencing. Three samples with mutations identified at the local centres were not detected by the DHPLC screen. No additional mutations were detected by DHPLC. Mutation detection across groups within GenoMEL is carried out to a consistently high standard. The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.