Cargando…
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...
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 |
Ejemplares similares
-
Mapping of deletion breakpoints at the CDKN2A locus in melanoma: detection of MTAP-ANRIL fusion transcripts
por: Xie, Huaping, et al.
Publicado: (2016) -
Variants at the 9p21 locus and melanoma risk
por: Maccioni, Livia, et al.
Publicado: (2013) -
TERT promoter mutations in melanoma survival
por: Nagore, Eduardo, et al.
Publicado: (2019) -
Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways
por: Srivastava, Aayushi, et al.
Publicado: (2019) -
Survival in melanoma in the nordic countries into the era of targeted and immunological therapies
por: Tichanek, Filip, et al.
Publicado: (2023)