{"entity":{"id":"paper-ren-chinese-prostate-whole-genome-eur-urol-2018","kind":"paper","name":"Whole-genome and transcriptome sequencing of prostate cancer identifies new genetic alterations driving disease progression","aka":[],"tldr":"The first large genomic study of prostate cancer in Chinese men found the signature fusion that dominates Western series is uncommon, and a different deletion takes its place.","summary":"Whole-genome and transcriptome sequencing was performed on tumour and matched benign tissue from 65 treatment-naive Chinese prostate cancer patients, with targeted deep sequencing of 293 prostate cancer-relevant genes in a further 145 tumours. A high frequency of CHD1 deletion was associated with a low rate of TMPRSS2-ERG fusion and a relatively high proportion of mutations in genes upstream of the androgen receptor. Five putative clustered deleted tumour suppressor genes were identified, with experimental and clinical evidence that PCDH9, deleted or lost in about 23% of tumours, functions as a tumour suppressor with prognostic value. Axon guidance pathway genes were frequently deregulated, including gain or amplification of PLXNA1 in about 17% of tumours, and increased PLXNA1 expression promoted tumour growth and independently predicted biochemical recurrence, metastasis and poor survival in multi-institutional cohorts.","asOf":"2026-09-25","links":[{"label":"Ren et al., Eur Urol 2018: whole-genome and transcriptome sequencing of 65 treatment-naive Chinese prostate cancers with a 145-tumour targeted validation cohort","url":"https://doi.org/10.1016/j.eururo.2017.08.027"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/28927585/"},{"label":"cBioPortal study prad_eururol_2017 (Second Military Medical University, Eur Urol 2018; 65 treatment-naive Chinese prostate cancers)","url":"https://www.cbioportal.org/study/summary?id=prad_eururol_2017"}],"tags":[],"related":[],"cancers":["prostate"],"sections":[],"technologies":["wes-wgs","rna-seq"],"targets":["erg","tmprss2","androgen-receptor"],"drugs":[],"companies":[],"institutions":[],"pathways":["prostate-cancer-signalling","ar-signaling","chromosomal-instability"],"terms":["gene-fusion","copy-number-variation-term","driver-mutation"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["european-urology"],"dependsOn":[],"notes":[],"journal":"European Urology","year":2018,"doi":"10.1016/j.eururo.2017.08.027","pmid":"28927585","authors":"Ren S, Wei GH, Liu D, et al.","paperType":"basic","findings":["High CHD1 deletion frequency with a low TMPRSS2-ERG fusion rate in Chinese patients.","PCDH9 deleted or lost in about 23% of tumours and shown to be a tumour suppressor with prognostic value.","PLXNA1 gained or amplified in about 17%, predicting recurrence, metastasis and poor survival."],"whatItMeans":"It is the reason a prostate cancer fusion frequency quoted without an ancestry is unsafe. In this cohort the founder event that defines almost half of Western tumours is uncommon, and the fusion-negative, CHD1-deleted route dominates instead.","caveats":["Sixty-five whole genomes with a 145-tumour targeted validation set.","Treatment-naive disease, so it describes the primary tumour.","PCDH9 and PLXNA1 have no therapy and have not been widely replicated."],"changedPractice":false,"participants":210},"route":"/key-papers/paper-ren-chinese-prostate-whole-genome-eur-urol-2018/","neighbours":{"cancer":[{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}],"technology":[{"id":"rna-seq","kind":"technology","name":"RNA sequencing & expression profiling","route":"/technologies/rna-seq/"},{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"target":[{"id":"androgen-receptor","kind":"target","name":"Androgen receptor","route":"/targets/androgen-receptor/"},{"id":"erg","kind":"target","name":"ERG","route":"/targets/erg/"},{"id":"tmprss2","kind":"target","name":"TMPRSS2","route":"/targets/tmprss2/"}],"pathway":[{"id":"ar-signaling","kind":"pathway","name":"Androgen receptor signalling","route":"/pathways/ar-signaling/"},{"id":"chromosomal-instability","kind":"pathway","name":"Chromosomal instability & aneuploidy","route":"/pathways/chromosomal-instability/"},{"id":"prostate-cancer-signalling","kind":"pathway","name":"Prostate cancer (KEGG map)","route":"/pathways/prostate-cancer-signalling/"}],"term":[{"id":"copy-number-variation-term","kind":"term","name":"Copy number alteration (CNA)","route":"/terms/copy-number-variation-term/"},{"id":"driver-mutation","kind":"term","name":"Driver mutation","route":"/terms/driver-mutation/"},{"id":"gene-fusion","kind":"term","name":"Gene fusion","route":"/terms/gene-fusion/"}],"journal":[{"id":"european-urology","kind":"journal","name":"European Urology","route":"/journals/european-urology/"}],"biomarker":[{"id":"tmprss2-erg-fusion","kind":"biomarker","name":"TMPRSS2-ERG fusion (and the other ETS rearrangements)","route":"/biomarkers/tmprss2-erg-fusion/"}]}}