Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation

An inherited single nucleotide variant (SNV) in the 5′UTR of the BRCA1 gene c.-107A > T was identified to be related to BRCA1 promoter hypermethylation and a hereditary breast and ovarian cancer phenotype in two UK families. We investigated whether this BRCA1 variant was also present in a Dutch c...

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Detalles Bibliográficos
Autores principales: de Jong, Vincent M. T., Pruntel, Roelof, Steenbruggen, Tessa G., Bleeker, Fonnet E., Nederlof, Petra, Hogervorst, Frans B. L., linn, Sabine C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020283/
https://www.ncbi.nlm.nih.gov/pubmed/36112334
http://dx.doi.org/10.1007/s10689-022-00314-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020283/
https://www.ncbi.nlm.nih.gov/pubmed/36112334
http://dx.doi.org/10.1007/s10689-022-00314-z

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