In total, nine germline mutations in the RECQL gene in the nine familial breast cancer patients were identified as pathogenic, including three nonsense mutations (L128X, W172X and Q266X), one splice-site mutation (395-2A>G) and five missense mutations (A195S, R215Q, R455C, M458K and T562) (Table 1 and Fig 3). Here, RECQL is linked to breast carcinoma.