Publications by authors named "Holly Ni Raghallaigh"
Article Synopsis
- * Researchers analyzed data from 16,340 men and found that a stronger FH was linked to a lower risk of both all-cause mortality and PrCa-specific mortality, especially with more affected relatives.
- * Limitations include potential biases due to the study's population primarily being of European ancestry and lack of comprehensive data on other health risk factors that could affect mortality outcomes.
Article Synopsis
- - Prostate cancer is the most common cancer among men in the western world, but general screening isn't recommended due to limitations of the PSA test; focus is shifting toward identifying and screening higher-risk groups based on age, ethnicity, and family history.
- - Recent studies have found rare genetic variants that increase the risk of prostate cancer and are investigating the use of a "polygenic risk score" (PRS) to personalize screening for these men, with a particular focus on at-risk groups like Black Afro-Caribbean men.
- - Integrating genomics into prostate cancer screening and treatment is becoming standard practice, enhancing the potential for targeted therapies and better outcomes for men with genetic predispositions to the disease.
Article Synopsis
- Lynch syndrome is a hereditary cancer syndrome linked to mutations in mismatch repair genes, increasing the risk for various cancers, especially colorectal and endometrial cancer, and recently identified as a risk factor for early-onset aggressive prostate cancer.
- The IMPACT study, an international research project, is evaluating the effectiveness of prostate-specific antigen (PSA) screening among men aged 40-69 with and without these genetic variants to determine the incidence and characteristics of prostate cancer.
- Initial findings from the first round of PSA screenings indicate differences in prostate cancer detection and characteristics between men with pathogenic variants compared to age-matched controls who do not carry these variants.
Improvements in DNA sequencing technology and discoveries made by large scale genome-wide association studies have led to enormous insight into the role of genetic variation in prostate cancer risk. High-risk prostate cancer risk predisposition genes exist in addition to common germline variants conferring low-moderate risk, which together account for over a third of familial prostate cancer risk. Identifying men with additional risk factors such as genetic variants or a positive family history is of clinical importance, as men with such risk factors have a higher incidence of prostate cancer with some evidence to suggest diagnosis at a younger age and poorer outcomes.
View Article and Find Full Text PDFBackground: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations.
Objective: To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status.
Background: The homeobox B13 (HOXB13) G84E mutation has been recommended for use in genetic counselling for prostate cancer (PCa), but the magnitude of PCa risk conferred by this mutation is uncertain.
Objective: To obtain precise risk estimates for mutation carriers and information on how these vary by family history and other factors.
Design, Setting, And Participants: Two-fold: a systematic review and meta-analysis of published risk estimates, and a kin-cohort study comprising pedigree data on 11983 PCa patients enrolled during 1993-2014 from 189 UK hospitals and who had been genotyped for HOXB13 G84E.
Men with a susceptibility to prostate cancer and the role of genetic based screening.
Transl Androl Urol
February 2018
Prostate cancer is the second most common malignancy affecting men worldwide, and the commonest affecting men of African descent. Significant diagnostic and therapeutic advances have been made in the past decade. Improvements in the accuracy of prostate cancer diagnosis include the uptake of multi-parametric MRI and a shift towards targeted biopsy.
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