The same criticism can be put forward for the absence of STK11 variants being identified in 2000 familial breast cancer samples tested in the LIFEPOOL study.4 Peutz-Jeghers disease caused by STK11 variants is easily identified by peri-oral pigmentation and usually presents symptomatically in early life with multiple intestinal polyps11 (Table 1). The gene discussed is STK11; the disease is breast cancer.