Germline pathogenic and likely pathogenic variants (herein called pathogenic variants, PVs) in the tumour suppressor genes BRCA1 and BRCA2 are predominantly associated with a significantly increased risk of breast and ovarian cancer in women, breast cancer (BC) and prostate cancer (PCa) in men, and pancreatic cancer (PC) and melanoma in both genders, with different risk rates (1). The gene discussed is BRCA1; the disease is pachyonychia congenita.