The impact of an expanded genetic testing program and selective oophorectomy on the incidence of ovarian cancer in West Pomerania

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• 作者：J. Menkiszak ; V. Sopik ; A. Chudecka-Głaz ; W. Domagała ; E. Urasińska ; H. Symonowicz ; E. Majdanik ; P. Waloszczyk ; K. Sycz ; M. Świniarska ; T. Huzarski ; C. Cybulski ; T. Debniak ; O. Oszurek ; J. Lubinski ; S.A. Narod and J. Gronwald
• 刊名：Clinical Genetics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：91
• 期：2
• 页码：322-327
• 全文大小：209K
• ISSN：1399-0004

文摘

The aim of the study was to evaluate the impact of a regional population-based genetic testing program on the incidence of ovarian cancer in West Pomerania. Between 1999 and 2010, a total of 37,552 women ages 35 to 70 were tested for three BRCA1 founder mutations at the outpatient genetics clinic of the Pomeranian Medical University in Szczecin, Poland. A total of 641 women were found to carry a mutation (1.7%) and of these, 220 had a prophylactic oophorectomy (34.3%). A total of 12 women had an occult cancer diagnosed at the time of prophylactic oophorectomy (5.5%). We estimate that 26 more ovarian cancers would have been diagnosed by January 2015 in the absence of these oophorectomies and that an additional 25 cancers will be prevented in the future (total 51). During this period, 1611 ovarian cancers were diagnosed in the region; therefore we estimate that approximately 1.6% of ovarian cancers were prevented between 1999 and 2015 by our genetic testing program. We conclude that the prophylactic oophorectomies performed between 1999 and 2010 as a result of widespread BRCA1 mutation testing have reduced the incidence of ovarian cancer in Pomerania by a small amount (about 1.6%), and that the impact of genetic testing will increase in the coming years.