Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: analysis of prognostic factors and survival (n=24) Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Monday, June 06, 2016

Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: analysis of prognostic factors and survival (n=24)

Open access

Objectives: To compare clinical–pathological characteristics and outcome between sporadic ovarian cancer and ovarian cancer in patents with hereditary breast and ovarian cancer syndrome (HBOC).
Methods: Twenty-four patients with ovarian cancer treated between 2000 and 2009 who tested positive for BRCA1/2 mutation (BRCA ) and a control group of 64 age-matched patients with no family history of breast/ovarian cancer (controls) were enrolled. Clinical–pathological characteristics, surgical outcome, overall (OS), and progression-free survival (PFS) were compared between the two groups.
Results: The high-grade serous histotype was more represented in BRCA than in controls (70.8% versus 53.1%) (p > 0.05). BRCA cancers were more frequently diagnosed at stage II than controls (20.83% versus 4.69%) (p = 0.024). Radical primary surgery was performed in 70% of women in both groups, with no difference in debulking results. In patients undergoing surgery after neoadjuvant chemotherapy, in all BRCA patients, optimal cytoreduction was achieved (versus 70% of the controls). PFS was significantly longer for BRCA patients compared to controls (60 months versus 22 months; p = 0.039). No significant difference was observed in OS between BRCA patients and controls.
Conclusions: At a median follow-up time of 46 months, BRCA patients have a better prognosis than controls in terms of PFS. Higher chemosensitivity of BRCA tumours was observed.
Published: 03/05/2016; Received: 28/10/2015


The estimated lifetime risk of ovarian cancer in BRCA1 mutation carriers is 40% to 50%, among BRCA2 mutation carriers the risk is lower, ranging from 20% to 30% [1], while the lifetime risk of ovarian cancer in the general population is 1.6%.
The mean age at diagnosis of ovarian cancer in patients with germ line BRCA1 mutations is younger than for patients with sporadic cancer [2, 3].
Most ovarian cancers associated with hereditary breast and ovarian cancer syndrome (HBOC) reported in the literature are high-grade and advanced-stage serous carcinomas, whereas borderline and mucinous tumours are uncommon [4].
Ovarian cancers in patients with HBOC are associated with unfavourable pathological characteristics but with a higher chemosensitivity, [2, 5, 6, 7, 8, 9] as described in the term ‘BRCAness’ phenotype [10, 11]. Retrospective studies [5, 10, 11, 12, 13, 14] describe also a superior outcome; however, more recent data show only a short term but not a long-term survival advantage [15].
In the present study, we compare clinical–pathological characteristics and outcome, in terms of overall survival (OS) and progression-free survival (PFS), of HBOC and sporadic ovarian cancer.

Materials and methods

Study population

The study was carried out on 24 ovarian cancer patients who tested positive for BRCA1/2 mutation (BRCA ) and 64 age-matched patients, without any family history of breast/ovarian cancer, not tested for BRCA mutation (controls), retrieved from the database of cases operated by the same surgical team between 2000 and 2009 at our institution. Somatic BRCA mutation in the tumours was not assessed.......


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