lunes, 13 de noviembre de 2017

Prostate Cancer Germline Variations and Implications for Screening and Treatment. - PubMed - NCBI

Prostate Cancer Germline Variations and Implications for Screening and Treatment. - PubMed - NCBI



 2017 Nov 3. pii: a030379. doi: 10.1101/cshperspect.a030379. [Epub ahead of print]

Prostate Cancer Germline Variations and Implications for Screening and Treatment.

Abstract

Prostate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves common low-penetrance susceptibility alleles causing individually small but cumulatively significant risk and rarer genetic variants causing greater risk represent the current most accepted model. Through genome-wide association studies, more than 100 single-nucleotide polymorphisms (SNPs) associated with PCa risk have been identified. Consistent reports have identified germline mutations in the genes BRCA1BRCA2MMRHOXB13CHEK2, and NBS1 as conferring moderate risks, with some leading to a more aggressive disease behavior. Considering this knowledge, several research strategies have been developed to determine whether targeted prostate screening using genetic information can overcome the limitations of population-based prostate-specific antigen (PSA) screening. Germline DNA-repair mutations are more frequent in men with metastatic disease than previously thought, and these patients have a more favorable response to therapy with poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors. Genomic information is a practical tool that has the potential to enable the concept of precision medicine to become a reality in all steps of PCa patient care.

PMID:
 
29101112
 
DOI:
 
10.1101/cshperspect.a030379

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