Women with mutations in either their BRCA1 or BRCA2 genes have a dramatically increased risk of developing breast or ovarian cancer. Identifying such women provides them with an opportunity to take preventive measures such as surgery to remove their breasts. One caveat to identifying such women by simply sequencing their BRCA1 and BRCA2 genes and detecting mutations is that not all mutations are harmful. However, Shyam Sharan and colleagues, at the National Cancer Institute at Frederick, have now developed an assay to distinguish harmful BRCA1 mutations from those that are not. As discussed by the authors and, in an accompanying commentary, Roger Greenberg, this assay has immense clinical potential to identify those patients that might benefit from treatments to prevent breast cancer.
TITLE: Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations
AUTHOR CONTACT:
Shyam K. Sharan
National Cancer Institute at Frederick, Frederick, Maryland, USA.
Phone: (301) 846-5140; Fax: (301) 846-7017; E-mail: sharans@mail.nih.gov .
View the PDF of this article at: https://www.the-jci.org/article.php?id=39836
ACCOMPANYING COMMENTARY
TITLE: Breast cancer gene variants: separating the harmful from the harmless
AUTHOR CONTACT:
Roger A. Greenberg
University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Phone: (215) 746-2738; Fax: (215) 573-2486; E-mail: rogergr@mail.med.upenn.edu .
View the PDF of this article at: https://www.the-jci.org/article.php?id=40577
Journal of Clinical Investigation