In the second,2 9639 patients with breast cancer were assessed, whilst the third assessed the risk of triple negative breast cancer in 8753 women.3 Whilst two studies used control data from the ExAc database1,3 the second used a combination of controls tested for non-cancer indications.2 The larger initial study1 identified NF1 gene variants in 0.1% compared to 0.11% in ExAc controls. Here, NF1 is linked to breast carcinoma.