The distribution of PVs along the genes sequence in GEMO and the GGC BRCA1/2 database overlaps (Supplementary Table 2), although a few variants were under-represented in GEMO reflecting a recruitment bias in the study due to the absence of participating cancer clinics in some regions (e.g., BRCA1:c.5260G>T is identified mostly in families from Western France). The gene discussed is BRCA1; the disease is cancer.