Cargando…
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition
Substantial numbers of variants of unknown significance (VUSs) have been identified in BRCA1/2 through genetic testing, which poses a significant clinical challenge because the contribution of these VUSs to cancer predisposition has not yet been determined. Here, we report 10 Japanese patients from...
Autores principales: | Yamazawa, Kazuki, Sugano, Kokichi, Tanakaya, Kohji, Inoue, Satomi, Murakami, Haruka, Nakashima, Moeko, Adachi, Masataka, Oki, Shinya, Makabe, Takeshi, Yamashita, Hiroshi, Ueki, Arisa, Sasaoka, Ayako, Nakashoji, Ayako, Kinoshita, Takayuki, Matsunaga, Tatsuo, Arai, Masami, Nakamura, Seigo, Miyata, Hiroaki, Ikegami, Masachika, Mano, Hiroyuki, Kohsaka, Shinji, Matsui, Akira |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10323079/ https://www.ncbi.nlm.nih.gov/pubmed/37067535 http://dx.doi.org/10.1111/cas.15799 |
Ejemplares similares
-
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine
por: Liu, Ruihong, et al.
Publicado: (2017) -
Diverse Effects of the NTCP p.Ser267Phe Variant on Disease Progression During Chronic HBV Infection and on HBV preS1 Variability
por: Yang, Fangji, et al.
Publicado: (2019) -
The NTCP p.Ser267Phe Variant Is Associated With a Faster Anti-HBV Effect on First-Line Nucleos(t)ide Analog Treatment
por: Wu, Lina, et al.
Publicado: (2021) -
2616. Genetic Susceptibility to Life-Threatening Respiratory Syncytial Virus Infection in Previously Healthy Infants
por: Ferolla, Fausto Martin, et al.
Publicado: (2019) -
PB2616: SYSTEMIC LUPUS ERYTHEMATOSUS RELATED IMMUNE THROMBOCYTOPENIA: A CHARACTERISTIC CLINICAL FENOTIPE
por: Cornudella, Jesus, et al.
Publicado: (2023)