Abstract 2462: Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 in complete hydatidiform moles from Chinese Han women

Abstract

Abstract Complete hydatidiform mole (CHM) is an uncommon pregnancy-related disease with an invasive potential. The genetic background of the sporadic CHM has not been addressed previously despite the possible mechanisms of maternal genetic variants to the development of this disease with biparental origin. We performed the whole-exome sequencing analysis on 51 CHM patients and 47 normal healthy women, then the second screening of the probable mutations by mass spectrometry in 199 CHM patients and 400 normal healthy women. Finally the candidate genetic polymorphisms were validated by direct Sanger sequencing in 247 cases and 599 controls with another 205 new controls. We eventually found that two SNPs c.G48C(p.Q16H) in ERC1 and c.G1114A(p.G372S) in KCNG4, were associated with an increased risk for CHM (p<0.05). These genetic variants will facilitate our understanding on the pathogenesis of CHM and related tumors as well as the oogenesis and embryonic implantation. They will provide beneficial information for the pregnant women both in physiology and psychology. Further multiple-disciplinary collaborations should be encouraged to clarify the accurate pathogenesis of CHM. Citation Format: Yan Yu, Bingjian Lu, Weiguo Lu, Xinyu Wang, Pengyuan Liu, Yan Lu, Xiaodong Cheng, Xing Xie. Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 in complete hydatidiform moles from Chinese Han women [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 2462. doi:10.1158/1538-7445.AM2017-2462