Table 2.

Breakdown of the patients included in the study, based on the criteria fulfilled to be screened for pathogenic mutations in BRCA1 and BRCA2.

Phenotype	Number of patients	BARD1 pathogenic mutations carriers
i) one BC diagnosed at < 40 years	194	1 (0.51%)d
ii) ≥ 2 first-degree relatives diagnosed with BC at least one of them at < 50 years	622	1 (0.16%)
iii) one TNBC diagnosed at < 60 yearsa	116	1 (0.86%)
iv) ≥ 3 first-degree BC relatives	233	2 (0.85%)
v) ≥ 1 male BC caseb	39	–
vi) ≥ 1 ovarian cancer casec	447	–
vii) BC not fulfilling i-vi criteria but being bilateral or having any antecedent of pancreatic or prostate cancer	295	–
Total	1946	5 (0.26%)

BC Breast cancer, TNBC Triple negative breast cancer.

^aincludes only patients without familial antecedents of BC or ovarian cancer, TNBC cases fulfilling any of the other criteria (i-vi), were included in the corresponding group, the total number of TNBC in the whole series is 243.

^bAll male breast cancer cases were included in this group, even if they fulfilled any of the other criteria.

^cAll families containing one ovarian cancer case were included in this group, even if they fulfilled any of the other criteria, except those in which there was a case of male breast cancer that were included in group v.

^dNumber and percentage of patients carrying pathogenic BARD1 mutations in each phenotypic group.