Background Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited
disorder with an increased risk of breast cancer (BC) and ovarian cancers (OC). Mutations in
BRCA1-BRCA2 explains less than a half of cases. In the last decade several genes with
different penetrance have been associated with an increased risk of BC or OC. A recurrent
heterozygous ERCC3 truncating mutation increases the risk for breast cancer in patients
with Ashkenazi Jewish ancestry. Our study aimed to investigate the role of ERCC3 …

We have read with interest the article by Stradella et al.[1], suggesting ERCC3 as a new
gene predisposing the hereditary breast (BC) and ovarian (OC) cancer. The authors
identified 13 ERCC3 mutation carriers among 1311 patients with hereditary breast and/or
ovarian cancer (HBOC; 0.99%), while the mutation burden in Spanish controls was four
times lower (0.22%) and corresponded to European non-Finnish GnomAD controls (0.24%).
The authors found a significant association of ERCC3 mutations with OC risk. This was …