Abstract 1346P
Background
Carriers of BRCA1/2 pathogenetic variants are at increased risk of developing breast, tube/ovarian and other typical cancers of the hereditary spectrum. Secondary and primary prevention are the main strategies for the management of at-risk subjects. Intensified surveillance allows to identify early-stage cancers. Risk-reducing mastectomy and salpingo-oophorectomy decrease the incidence of primary cancers, the latter also decreases mortality.
Methods
We evaluated two years of the activity of the multidisciplinary team of hereditary cancers at National Cancer Institute in Naples, Italy. The team facilitated the development of the extraordinary program of the Campania Cancer Network for hereditary cancers, that foresees free genetic testing and exams for at-risk subjects.
Results
Since 2020 to 2021, 796 patients (205 ovarian cancers, 591 breast cancers) underwent to cancer genetic counselling. Genetic testing for BRCA1/2 genes was performed in 355 patients; moreover, multi-gene panel was performed in 274 patients. After genetic test disclosure, 159 at-risk healthy family members underwent to genetic testing. Overall, BRCA1/2 pathogenetic variants were detected in 107 subjects. Pathogenetic variants for other genes (PALB2, CDH1, TP53, PTEN) were identified in 18 patients. Carriers of pathogenetic variants joined the prevention program. Fifteen risk-reducing mastectomies were performed (5 in patients with breast cancers; 10 in healthy subjects). Moreover, 42 women underwent salpingo-oophorectomy. On surveillance, one triple negative breast cancer was diagnosed at a very early-stage (pT1 mic N0) in a young healthy BRCA1 carrier; 1 melanoma in situ was diagnosed in a BRCA2 carrier with previous bilateral breast and ovarian cancers. During risk-reducing mastectomy an atypical ductal hyperplasia (ADH) was detected in a BRCA1 carrier. Salpingo-oophorectomy detected three early cancers: 2 serous tubal in situ carcinomas (STICs) and 1 invasive tubal carcinoma (stage 1C according to FIGO classification).
Conclusions
In just two years, there was a very high detection of early-stage cancers and a precancerous lesion, applying the regional program for hereditary cancers.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Multidisciplinary team for hereditary cancers.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.