Giannakeas Vasily, Sopik Victoria, Shestopaloff Konstantin, Iqbal Javaid, Rosen Barry, Akbari Mohammad, Narod Steven A
Women's College Research Institute, Women's College Hospital, Toronto, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.
Women's College Research Institute, Women's College Hospital, Toronto, Canada.
Gynecol Oncol. 2015 Nov;139(2):242-7. doi: 10.1016/j.ygyno.2015.08.020. Epub 2015 Sep 2.
It is important to identify women in the population who have a high risk of ovarian cancer and who might benefit from prophylactic bilateral salpingo-oophorectomy. The probability that a woman will develop ovarian cancer depends on her current age, her reproductive history and her genetic status.
We simulated the distribution of ovarian cancer risk for the 2011 Ontario female population. We generated (at random) individual risks of ovarian cancer to age 80 for 6,301,340 women, based on the published risk factors, mutation frequencies and population age-specific incidence rates (SEER database). Risk factors included parity, breastfeeding, oral contraceptives, tubal ligation and family history. Genetic factors included 11 single nucleotide polymorphisms (SNPs) and BRCA1/2 mutations.
Of the 6,301,340 women simulated as the general population of Ontario, the (complete) model predicts that 65,805 women (1.0%) will develop ovarian cancer by age 80. There were 46,069 women (0.7%) with a risk of ovarian cancer above 5%. BRCA1/2 mutation carriers accounted for 67.4% of the women at greater than 5% risk (31,028 women). Among ovarian cancer patients at greater than 5% risk, a BRCA1/2 mutation was present in 89.2%. In contrast, SNPs contribute to a very small proportion of the ovarian cancer patients who were at greater than 5% risk.
Approximately 12.9% of all ovarian cancers in Ontario occur in the 0.7% of women in the general population who have a lifetime ovarian cancer risk in excess of 5%, the majority of whom carry a mutation in BRCA1 or BRCA2.
识别出人群中卵巢癌高危女性以及可能从预防性双侧输卵管卵巢切除术获益的女性非常重要。女性患卵巢癌的概率取决于其当前年龄、生育史和基因状态。
我们模拟了2011年安大略省女性人群卵巢癌风险的分布情况。基于已发表的风险因素、突变频率和人群年龄特异性发病率(监测、流行病学和最终结果数据库),我们随机生成了6301340名女性至80岁时患卵巢癌的个体风险。风险因素包括产次、母乳喂养、口服避孕药、输卵管结扎和家族史。基因因素包括11个单核苷酸多态性(SNP)和BRCA1/2突变。
在模拟为安大略省普通人群的6301340名女性中,(完整)模型预测到80岁时将有65805名女性(1.0%)会患卵巢癌。有46069名女性(0.7%)患卵巢癌的风险高于5%。BRCA1/2突变携带者占风险高于5%女性的67.4%(31028名女性)。在风险高于5%的卵巢癌患者中,89.2%存在BRCA1/2突变。相比之下,SNP在风险高于5%的卵巢癌患者中所占比例非常小。
安大略省所有卵巢癌中约12.9%发生在普通人群中0.7%的女性身上,这些女性终生患卵巢癌的风险超过5%,其中大多数携带BRCA1或BRCA2突变。