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...

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Detalles Bibliográficos
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:
Case Report
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830606/
https://www.ncbi.nlm.nih.gov/pubmed/33477375
http://dx.doi.org/10.3390/ijms22020889

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