However, the human clinical observations in Chauvin et al. highlight that previously unrecognized aspects of a DNA damage phenotype may occur in RVCL-S: female patients with RVCL-S exhibit an elevated breast cancer risk, similar to that seen with BRCA1/2 mutations, and RVCL-S patient embryos exhibit genomic instability with chromosomal aneuploidy. This evidence concerns the gene BRCA1 and breast cancer.