Login / Signup

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

Ciyu YangAngela G ArnoldAmanda CatchingsVikas RaiZsofia K StadlerZarina Yelskaya
Published in: Breast cancer research and treatment (2021)
Our results indicate that the RAD51D 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 the RAD51D variant may contribute to predisposition to the ovarian cancer in this family.
Keyphrases
  • high grade
  • papillary thyroid
  • dna damage
  • dna repair
  • squamous cell
  • low grade
  • tyrosine kinase
  • childhood cancer
  • young adults