Prostate Cancer Genomics: Recent Advances and the Prevailing Underrepresentation from Racial and Ethnic Minorities.

作者: Shyh-Han Tan , Gyorgy Petrovics , Shiv Srivastava

DOI: 10.3390/IJMS19041255

关键词:

摘要: Prostate cancer (CaP) is the most commonly diagnosed non-cutaneous and second leading cause of male deaths in United States. Among African American (AA) men, CaP prevalent malignancy, with disproportionately higher incidence mortality rates. Even after discounting influence socioeconomic factors, effect molecular genetic factors on racial disparity evident. Earlier studies basis for have focused heritable mutations single-nucleotide polymorphisms (SNPs). Most susceptibility alleles identified based genome-wide association (GWAS) were common, low-penetrance variants. Germline CaP-associated that are highly penetrant, such as those found HOXB13 BRCA2, usually rare. More recently, genomic enabled by Next-Gen Sequencing (NGS) technologies identification somatic contribute to tumorigenesis. These confirmed high prevalence ERG gene fusions PTEN deletions among Caucasian Americans novel alterations SPOP FOXA1 genes early stages CaP. Individuals ancestry other minorities often underrepresented these large-scale studies, which performed primarily using tumors from men European ancestry. The insufficient number specimens AA minority populations, together heterogeneity etiology across challenge generalizability findings projects. Efforts close this gap sequencing larger numbers tumor more diverse although still at an stage, discovered distinct alterations. research can a direct impact diagnosis CaP, stratification patients treatment, help address This review examines progress understanding genetics genomics highlight need increase representation populations.

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