The RAD51D c.82G & gt;A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer

ConclusionsOur results indicate that theRAD51D c.82G>A (p.Val28Met) variant contributes to cancer predisposition through disruption of normal mRNA splicing. The identification of this variant in an individual affected with high-grade serous fallopian tube cancer suggests that theRAD51D variant may contribute to predisposition to the ovarian cancer in this family.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research