Updates in Prostate Cancer Research and Screening in Men at Genetically Higher Risk.

Autor: Bancroft EK; Urology Genetics, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, SM2 5PT, UK.; Oncogenetics Team, The Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK., Raghallaigh HN; Urology Genetics, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, SM2 5PT, UK.; Oncogenetics Team, The Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK., Page EC; Urology Genetics, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, SM2 5PT, UK.; Oncogenetics Team, The Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK., Eeles RA; Urology Genetics, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, SM2 5PT, UK.; Oncogenetics Team, The Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK.
Jazyk: angličtina
Zdroj: Current genetic medicine reports [Curr Genet Med Rep] 2021; Vol. 9 (4), pp. 47-58. Date of Electronic Publication: 2021 Oct 08.
DOI: 10.1007/s40142-021-00202-5
Abstrakt: Purpose of Review: Prostate cancer (PrCa) is the most common cancer in men in the western world and is a major source of morbidity and mortality. Currently, general population PrCa screening is not recommended due to the limitations of the prostate-specific antigen (PSA) test. As such, there is increasing interest in identifying and screening higher-risk groups. The only established risk factors for PrCa are age, ethnicity, and having a family history of PrCa. A significant proportion of PrCa cases are caused by genetic factors.
Recent Findings: Several rare germline variants have been identified that moderately increase risk of PrCa, and targeting screening to these men is proving useful at detecting clinically significant disease. The use of a "polygenic risk score" (PRS) that can calculate a man's personalized risk based on a number of lower-risk, but common genetic variants is the subject of ongoing research. Research efforts are currently focusing on the utility of screening in specific at-risk populations based on ethnicity, such as men of Black Afro-Caribbean descent. Whilst most screening studies have focused on use of PSA testing, the incorporation of additional molecular and genomic biomarkers alongside increasingly sophisticated imaging modalities is being designed to further refine and individualise both the screening and diagnostic pathway. Approximately 10% of men with advanced PrCa have a germline genetic predisposition leading to the opportunity for novel, targeted precision treatments.
Summary: The mainstreaming of genomics into the PrCa screening, diagnostic and treatment pathway will soon become standard practice and this review summarises current knowledge on genetic predisposition to PrCa and screening studies that are using genomics within their algorithms to target screening to higher-risk groups of men. Finally, we evaluate the importance of germline genetics beyond screening and diagnostics, and its role in the identification of lethal PrCa and in the selection of targeted treatments for advanced disease.
Competing Interests: Conflict of InterestE. Bancroft, H. Ni Raghallaigh and E. Page have no conflicts of interest to disclose. Prof Eeles reports personal fees from AstraZeneca UK Limited for her role as a member of external Expert Committee as part of the Prostate Cancer Diagnosis Advisory Panel, and University of Chicago for an invited lecture, both of which are outside the submitted work.
(© The Author(s) 2021.)
Databáze: MEDLINE
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