Yurchenko et al. describe a series of young xeroderma pigmentosum group C patients with early-onset gynecological tumors. DICER1 mutations are seen in all tumors, along with increased mutagenesis and a mutational profile characteristic of nucleotide excision repair deficiency.
- Andrey. A. Yurchenko
- Brice Fresneau
- Sergey I. Nikolaev
