Cargando…
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer
One of the strongest risk factors predisposing patients to breast cancer is a positive family history. In our study, we describe a patient diagnosed with multiple breast cancer tumors. Genetic analysis revealed a pathogenic variant in BARD1, which is associated with an increased risk of developing c...
Autores principales: | Gass, Jennifer, Tatro, Madeline, Blackburn, Patrick, Hines, Stephanie, Atwal, Paldeep S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290515/ https://www.ncbi.nlm.nih.gov/pubmed/28174632 http://dx.doi.org/10.1002/ccr3.793 |
Ejemplares similares
-
Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
por: DeMeo, Natasha N., et al.
Publicado: (2017) -
Expanded phenotype in a patient with spastic paraplegia 7
por: Gass, Jennifer, et al.
Publicado: (2017) -
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient
por: Gass, Jennifer, et al.
Publicado: (2017) -
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
por: Harris, Antoneicka L., et al.
Publicado: (2018) -
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
por: Lara‐Velazquez, Montserrat, et al.
Publicado: (2017)