Carriers of germline BRCA1/2 mutations are at high risk of developing ovarian, tubal or peritoneal cancer. Actually, risk-reducing bilateral salpingo-oophorectomy (RRSO) is the only definite preventive strategy. The aim of this study is to characterize the clinical and pathological features of early occult malignancies incidentally diagnosed after a RRSO in carriers of BRCA1/2 mutations followed at a high risk familial cancer clinic in a community public hospital in NW Spain.
Data were prospectively collected from 95 consecutive BRCA-positive women diagnosed at our high risk familial cancer clinic from March 2014 to March 2017.
Among 95 BRCA1/2 carriers (median age 45 years) 38 women were healthy and 57 have had a previous breast cancer diagnosis. Half of the carriers hold the founder mutation R71G in BRCA1 (69 in BRCA1, 25 in BRCA2, and 1 was a carrier of a mutation in both genes). RRSO was performed in 29 cases (21 in BRCA1 and 8 in BRCA2; median age 50 years). Three BRCA1/2 carriers older than 45 years-old refused to undergo a RRSO. After RRSO two patients (6.4%), both BRCA1-positive, were found to have an early occult adnexal malignancy upon pathology study. One 64-year-old carrier had an invasive serous fallopian tube carcinoma stage I with no involvement of the ovaries plus a stage I endometrial endometrioid carcinoma on the staging hysterectomy. The second 44-year-old women were found at the time of the RRSO a stage Ia invasive high grade serous ovarian carcinoma with no fallopian tubes involvement.
A 6.4% incidence of early occult adnexal malignancy after RRSO was found in our cohort of BRCA1/2 carriers. This incidence is similar to that previously published in studies done at international reference centers. The coordinated management of BRCA1/2 mutation carriers between different departments of our institution allows results comparable to international standards. Greater efforts must be made to improve the acceptance of RRSO by BRCA carriers, especially after the age of 40.
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Author: Begoña Graña Suárez.
Has not received any funding.
B. Grana Suarez: Research grant / Funding (institution), Travel / Accommodation / Expenses: Amgen; Travel / Accommodation / Expenses: Celgene; Travel / Accommodation / Expenses: Roche; Travel / Accommodation / Expenses: Servier. All other authors have declared no conflicts of interest.