ArticleHereditary cancer in clinical practice2020
Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example.
Article in Hereditary cancer in clinical practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- CDKN2A and matrix metalloproteinases: key regulators of cellular senescence in squamous cell carcinoma.American journal of translational research · 2025Article
- Survival in melanoma in the nordic countries into the era of targeted and immunological therapies.European journal of cancer (Oxford, England : 1990) · 2023Article
- Current understanding of epigenetics role in melanoma treatment and resistance.Cancer cell international · 2022Review
- Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.Bosnian journal of basic medical sciences · 2022Review
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Authors and funding
7 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhen germline mutations are suspected as causal in cancer, patient DNA may be sequenced to detect variants in relevant genes. If a particular mutation has not been reported in reliable family studies, genetic counselors are facing a dilemma of appropriately informing patients. Many sequencing facilities provide an interpretation of the findings based on the available sequence databases or on prediction tools that are curated from bioinformatics and mechanistic datasets. The counseling dilemma is exacerbated if the pedigree data are not informative but the in silico predictions suggest pathogenicity.
methodsWe present here a real world example of the c.256G > A
resultsThis c.256G > A
conclusionsThe pedigree data showed at the most a low penetrance variant, which, if taken into consideration, might have altered the provided diagnosis. When dealing with 'practically' unknown variants the counselors would be advised to incorporate a detailed family history rather than basing predictions on functionality provided by sequencing facilities.
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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.