Of those, 120 women were excluded (37 had no documented gene mutation and no family history of PSC in a first or second-degree relative; 34 were non-carriers within a BRCA1 or BRCA2 mutation-carrying family; 24 carried a variant of uncertain significance in BRCA1 or BRCA2; 20 had a previous history of gynaecological cancer or metastatic cancer; 4 carried a mutation in the p53 or ATM genes; and for 1 the pathology report could not be obtained). Here, ATM is linked to metastatic malignant neoplasm.