Abstract
Background: Women with BRCA1/2 germline mutations who undergo bilateral salpingo-oophorectomy (BSO) are left with a residual risk of peritoneal serous carcinoma (PSC). We aimed to identify the incidence and risk factors for the development of PSC after BSO in BRCA1/2 mutation carriers. Methods: One-hundred-seventeen BRCA1/2 mutation carriers who underwent BSO were evaluated for further development of PSC. The BSO specimens were evaluated for occult Fallopian tube carcinoma (FTC), ovarian carcinoma (OVC) and serous tubal intraepithelial carcinoma (STIC) in all patients. P53-signature was available in 58 patients. Clinical data was obtained from patients’ charts. We calculated the association between clinical, pathological and molecular risk factors of PSC after BSO. Results: Analysis of BSO specimens revealed occult FTC in 1 woman (0.8%), STIC in 2 women (1.7%), and 6/58 women (10.3%) had a positive “p53 signature”. Older age at menopause (p=0.007) and shorter oral contraceptive use (p<0.001) were associated with FTC and STICs. The incidence of PSC after BSO was 1.7% (two patients). Both were BRCA2 mutation carriers and one had a history of STIC. The only risk factor identified for PSC after BSO was older age at surgery (63.5 years for patients with PSC vs. 48.6 years for patients without PSC, p<0.001). Conclusions: The incidence of PSC after BSO in our series is 1.7% and it is associated with an older age at BSO. Earlier menopause and oral contraceptive use seem to be associated with a decrease in the prevalence of occult FTC and STICs.
Highlights
Women carrying a BRCA1 or BRCA2 germline mutation are at increased risk of developing ovarian carcinoma (OVC), Fallopian tube carcinoma (FTC) and peritoneal serous carcinoma (PSC) [1]
Our aims were to describe the clinical, pathological and molecular characteristics of women with a BRCA germline mutation who underwent bilateral salpingo-oophorectomy (BSO), analyze the incidence of PSC after BSO, and identify clinical, pathological and molecular risk factors associated with PSC in our clinic-based cohort of BRCA1 and BRCA2 mutation carriers
From April 2005 to September 2013, we identified 117 consecutive women with a BRCA germline mutation (48% BRCA1 and 52% BRCA2) who had undergone BSO
Summary
Women carrying a BRCA1 or BRCA2 germline mutation are at increased risk of developing ovarian carcinoma (OVC), Fallopian tube carcinoma (FTC) and peritoneal serous carcinoma (PSC) [1]. The estimated average cumulative risk of ovarian cancer (which generally includes FTC and PSC) to age 70 years in BRCA1 and BRCA2 mutation carriers is estimated to be 40% and 18%, respectively [2]. The frequency of CA-125 and transvaginal ultrasound assessment is currently being reviewed [8] and bilateral salpingo-oophorectomy (BSO) is being recommended as the most efficient risk reduction strategy in this population, with a risk reduction for OVC and FTC in the range of 80 - 86% [9,10,11,12]. Women with BRCA1/2 germline mutations who undergo bilateral salpingo-oophorectomy (BSO) are left with a residual risk of peritoneal serous carcinoma (PSC). We aimed to identify the incidence and risk factors for the development of PSC after BSO in BRCA1/2 mutation carriers
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