Exome sequencing of pseudomyxoma peritonei

Pseudomyxoma peritonei (PMP) is a subtype of mucinous adenocarcinoma mainly restricted to the peritoneal cavity and most commonly originating from the appendix. In this study, we sequenced whole coding genome of nine PMP tumors and paired normal tissues in order to identify commonly mutated genes and signaling pathways affected in PMP.EGA study EGAS00001002418

腹膜假性黏液瘤（Pseudomyxoma peritonei, PMP）是黏液性腺癌的一个亚型，主要局限于腹膜腔，且最常起源于阑尾。本研究对9例腹膜假性黏液瘤肿瘤及其配对正常组织的全编码基因组进行测序，旨在鉴定该疾病中常见的突变基因与受影响的信号通路。本研究的欧洲基因组表型档案（European Genome-phenome Archive, EGA）编号为EGAS00001002418。