Department of Obstetrics & Gynaecology, University of British Columbia, Vancouver, BC, Canada.
Pathology & Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
BMC Cancer. 2018 Mar 5;18(1):254. doi: 10.1186/s12885-018-4153-8.
Identifying female carriers of BRCA1 and BRCA2 mutations is imperative for prevention of ovarian cancer and breast cancer. There are five major histologic subtypes of ovarian cancer and high grade serous cancer (the most common) is reported in 75-100% of BRCA1 and BRCA2 mutation carriers. We examined histology-based referral to the Hereditary Cancer Program following an educational prevention campaign recommending BRCA1 and BRCA2 mutation screening for all high-grade serous cancer patients.
We conducted a population-based retrospective study in the province of British Columbia, Canada that included all patients visiting the Hereditary Cancer Program for genetic counselling for BRCA1 and BRCA2 mutation between 2001 and 2014. We examined the difference in rates of BRCA1 and BRCA2 testing between serous cancer patients and endometrioid and clear cell cancer patients using a differences in differences analysis. We also calculated the mean number of family members tested for every BRCA1 and BRCA2 identified ovarian cancer patient before and after the educational campaign.
There were 5712 women tested for a BRCA1 and BRCA2 mutation at the HCP between 2001 and 2014, 887 of which had previously received a diagnosis of ovarian cancer. By 2013, 43% of serous cancer patients were being tested for BRCA1 and BRCA2 mutations compared with 20% of endometrioid and clear cell patients (p < 0.001). The mean number of family members tested for each BRCA1 and BRCA2 positive ovarian cancer patient increased after the educational campaign from 2.54 to 3.27 (p = 0.071), and the number of family members identified as BRCA positive also increased significantly.
Recommendations for histology-based referral significantly increased the likelihood of serous cancer patients being tested for BRCA mutations. There was also an increase in the number of carrier tests performed for each BRCA1 and BRCA2 index ovarian cancer patient.
识别 BRCA1 和 BRCA2 突变的女性携带者对于预防卵巢癌和乳腺癌至关重要。卵巢癌有五个主要组织学亚型，BRCA1 和 BRCA2 突变携带者中约 75-100%报告为高级别浆液性癌（最常见）。我们检查了组织学基础，在一项推荐对所有高级别浆液性癌患者进行 BRCA1 和 BRCA2 突变筛查的教育预防运动后，向遗传性癌症计划转诊。
我们在加拿大不列颠哥伦比亚省进行了一项基于人群的回顾性研究，该研究包括 2001 年至 2014 年间所有因 BRCA1 和 BRCA2 突变前往遗传性癌症计划进行遗传咨询的患者。我们使用差异分析比较了浆液性癌患者与子宫内膜样癌和透明细胞癌患者之间 BRCA1 和 BRCA2 检测率的差异。我们还计算了教育运动前后每例经 BRCA1 和 BRCA2 鉴定为卵巢癌患者测试的平均家族成员数量。
2001 年至 2014 年间，共有 5712 名女性在 HCP 接受了 BRCA1 和 BRCA2 突变检测，其中 887 名女性此前被诊断为卵巢癌。到 2013 年，43%的浆液性癌患者接受了 BRCA1 和 BRCA2 突变检测，而 20%的子宫内膜样癌和透明细胞癌患者接受了检测（p<0.001）。教育运动后，每位经 BRCA1 和 BRCA2 阳性卵巢癌患者测试的平均家族成员数量从 2.54 增加到 3.27（p=0.071），BRCA 阳性家族成员数量也显著增加。
基于组织学的转诊建议显著增加了浆液性癌患者接受 BRCA 突变检测的可能性。每个 BRCA1 和 BRCA2 索引卵巢癌患者进行的携带者检测数量也有所增加。
