Cargando…
Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
There has been a rapid advance in germline multigene panel testing by next-generation sequencing, and it is being widely used in clinical settings. A 56-year-old woman suspected of having Lynch syndrome was identified as a BRCA2 pathogenic variant carrier by multigene panel testing. The patient was...
Autores principales: | Yoshihama, Tomoko, Hirasawa, Akira, Sugano, Kokichi, Yoshida, Teruhiko, Ushiama, Mineko, Ueki, Arisa, Akahane, Tomoko, Nanki, Yoshiko, Sakai, Kensuke, Makabe, Takeshi, Yamagami, Wataru, Susumu, Nobuyuki, Kameyama, Kaori, Kosaki, Kenjiro, Aoki, Daisuke |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7797406/ https://www.ncbi.nlm.nih.gov/pubmed/33489693 http://dx.doi.org/10.1007/s13691-020-00449-9 |
Ejemplares similares
-
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
por: Abe, Kodai, et al.
Publicado: (2021) -
TP53 variants in p53 signatures and the clonality of STICs in RRSO samples
por: Akahane, Tomoko, et al.
Publicado: (2022) -
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing
por: Nanki, Yoshiko, et al.
Publicado: (2020) -
Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling
por: Ueki, Arisa, et al.
Publicado: (2021) -
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer
por: Hirasawa, Akira, et al.
Publicado: (2017)