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Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example

BACKGROUND: When 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 seque...

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Detalles Bibliográficos
Autores principales: Hemminki, Kari, Srivastava, Aayushi, Rachakonda, Sivaramakrishna, Bandapalli, Obul, Nagore, Eduardo, Hemminki, Akseli, Kumar, Rajiv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393828/
https://www.ncbi.nlm.nih.gov/pubmed/32760473
http://dx.doi.org/10.1186/s13053-020-00146-x