Cargando…
A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe...
Autores principales: | Kwong, Ava, Ho, Cecilia Y. S., Shin, Vivian Y., Au, Chun Hang, Chan, Tsun Leung, Ma, Edmond S. K. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830606/ https://www.ncbi.nlm.nih.gov/pubmed/33477375 http://dx.doi.org/10.3390/ijms22020889 |
Ejemplares similares
-
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients
por: Kwong, Ava, et al.
Publicado: (2021) -
Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients
por: Kwong, Ava, et al.
Publicado: (2020) -
Germline mutations in Chinese ovarian cancer with or without breast cancer
por: Kwong, Ava, et al.
Publicado: (2022) -
Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women
por: Zhang, LingJiao, et al.
Publicado: (2018) -
BAMClipper: removing primers from alignments to minimize false-negative mutations in amplicon next-generation sequencing
por: Au, Chun Hang, et al.
Publicado: (2017)