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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...

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Detalles Bibliográficos
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