Record Detail

he identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due
to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial
Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer
patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counsel-
ing, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed
before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients
were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70
(7.8%) were excluded from analysis (p < 0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or
more risk criteria (p = 0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p < 0.001) and referral
rate (26.3 vs. 52%, p < 0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among
patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with
BRCA mutations significantly increased in the second period (25 vs. 76.5%, p = 0.03). In conclusion, there was a clear improve-
ment in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implemen-
tation of the HFCU.