Published: Jan. 1, 2024
Language: Английский
Breast Cancer, Journal Year: 2024, Volume and Issue: 31(6), P. 999 - 1009
Published: Aug. 27, 2024
Abstract Whole-genome sequencing (WGS) and whole-exome (WES) are crucial within the context of breast cancer (BC) research. They play a role in detection predisposed genes, risk stratification, identification rare single nucleotide polymorphisms (SNPs). These technologies aid discovery associations between various syndromes BC, understanding tumour microenvironment (TME), even identifying unknown mutations that could be useful future for personalised treatments. Genetic analysis can find associated BC used early screening, diagnosis, specific treatment plans, prevention patients who at high formation. This article focuses on application WES WGS, how uncovering novel candidate genes with treating preventing BC.
Language: Английский
Citations
5
BMJ, Journal Year: 2024, Volume and Issue: unknown, P. q807 - q807
Published: May 9, 2024
Language: Английский
Citations
4
Journal of Medical Genetics, Journal Year: 2025, Volume and Issue: unknown, P. jmg - 109948
Published: April 10, 2025
Background The management of women with germline pathogenic variants (GPVs) in breast (BC) and ovarian cancer (OC) susceptibility genes is focused on surveillance risk-reducing surgery/medication. Most are assigned an average range risk treated accordingly, but it possible to personalise this. Here, we explore the economic impact personalisation. Method We compared two strategies for stratification female participants: conventional assessment (CRA), which only involves information from genetic testing personalised (PRA), using non-genetic modifiers. Three different versions PRA were compared, combinations polygenic score questionnaire-based factors. A patient-level Markov model was designed estimate overall National Health Service cost quality-adjusted life years (QALYs) after assessment. Results given 20 groups based their GPV status family history. Across scenarios, results showed that cost-effective CRA a £20 000 per QALY threshold PALB2 who have OC or BC+OC history, ATM , CHEK2 RAD51C RAD51D . For BRCA1 BRCA2 no variant unknown history BC more cost-effective. specific situations predominantly associated moderate-risk GPVs ( / ), while high-risk ). Conclusion UK without genes.
Language: Английский
Citations
0
Srpski medicinski casopis Lekarske komore, Journal Year: 2025, Volume and Issue: 6(1), P. 16 - 27
Published: Jan. 1, 2025
This paper aims to discuss the term precision public health and its application in early detection of oncological diseases genomic risks for these diseases. The use artificial intelligence profiling are briefly elaborated on, including reflections on current status innovative approaches Republic Serbia. An environment big genetic data sets storage that is protected interoperable needs be created, keeping with findability, accessibility, interoperability, reusability (FAIR) principles. Wider genomics must meet well-established criteria population screening, which currently not case. risk factors can trigger penetrance genes, thus leading disease, also well known, as follows: unhealthy environments air pollution, smoking exposure second-hand smoke, stress, unbalanced diet, other harmful factors. Therefore, governance bodies policy decision-makers should focus building a healthy much working technical technological information infrastructure necessary further development health.
Language: Английский
Citations
0
International Journal of Molecular Medicine, Journal Year: 2024, Volume and Issue: 55(2)
Published: Nov. 27, 2024
Solute carrier (SLC) transporters are involved in various biological processes associated with metabolic reprogramming and cancer, supporting the increased requirement of nutrients energy. Over past decade, there have been significant advancements understanding expression function SLCs ovarian cancer (OC). This gynecological condition has a high mortality rate limited treatment options; thus, early diagnosis remains target clinically. OC exhibits complexity heterogeneity, resulting different clinical characteristics, resistance to chemotherapy drugs poor prognosis. Additionally, pattern between healthy tumor tissue, consequently, their inhibition or activation could modify signaling pathways growth process, such as cell proliferation, apoptosis drug accumulation. The present review aims consolidate current data provide comprehensive potential importance OC. it seeks offer guidance for further research on utilizing prognostic biomarkers therapeutic targets.
Language: Английский
Citations
1
Cancers, Journal Year: 2024, Volume and Issue: 16(7), P. 1358 - 1358
Published: March 30, 2024
Background: Risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO) are the most effective breast ovarian cancer preventive interventions. EQ-5D is recommended tool to assess quality of life determine health-related utility scores (HRUSs), yet there no published HRUSs after these procedures. These essential for clinicians counselling patients health-economic evaluations. Methods: We used aggregate data from our systematic review converted SF-36/SF-12 summary using a mapping algorithm. Study control arm or age-matched country-specific reference values provided comparison. Random-effects meta-analysis adjusted disutilities scores. Subgroup analyses included long-term vs. short-term follow-up. Results: Four studies (209 patients) reported RRM outcomes SF-36, five (742 RRSO SF-12/SF-36. associated with (>2 years) disutility −0.08 (95% CI −0.11, −0.04) (I2 31.4%) 0.92 0.88, 0.95) 31.4%). (>1 year) −0.03 −0.05, 0.00) 17.2%) 0.97 0.94, 0.99) 34.0%). Conclusions: present first sourced following RRSO. There need high-quality prospective characterise at different timepoints.
Language: Английский
Citations
0
Cancers, Journal Year: 2024, Volume and Issue: 16(13), P. 2324 - 2324
Published: June 25, 2024
BRCA genetic testing is available for UK Jewish individuals but the provision of information online unknown. We aimed to evaluate by organisations (UKO), community (JCO), and providers (GTP). Google searches offering were performed using relevant sets keywords. The first 100 website links categorised into UKOs/JCOs/GTPs; additional JCOs supplemented through experts. Websites reviewed customised questionnaires information. Information was assessed five domains: accessibility, scope, depth, accuracy, quality. These domains combined provide a composite score (maximum = 5). Results screened (n 6856) 45 UKOs, 16 JCOs, 18 GTPs provided Accessibility high (84%,66/79). Scope lacking with 35% (28/79) addressing >50% items. Most (82%, 65/79) described BRCA-associated cancers: breast and/or ovarian cancer mentioned 78%(62/79), only 34% (27/79) ≥1 pancreatic, prostate, melanoma. Few websites carrier frequencies in general (24%,19/79) populations (20%,16/79). Only 15% (12/79) had quality some/minimal shortcomings. Overall low-to-moderate: median scores UKO 2.1 (IQR 1), JCO 1.6 0.9), GTP 2.3 1) (maximum-score There scarcity high-quality online. findings have implications programmes those considering testing.
Language: Английский
Citations
0
JAMA Network Open, Journal Year: 2024, Volume and Issue: 7(9), P. e2432725 - e2432725
Published: Sept. 12, 2024
Importance Population-based BRCA testing can identify many more carriers who will be missed by the current practice of based on family history (FH) and clinical criteria. These benefit from screening prevention, potentially preventing breast ovarian cancers deaths than practice. Objective To estimate incremental lifetime health outcomes, costs, cost-effectiveness associated with population-based compared FH-based in Canada. Design, Setting, Participants For this economic evaluation, a Markov model was developed to compare costs outcomes BRCA1/BRCA2 for all general population women aged 30 years testing. are offered risk-reducing salpingo-oophorectomy reduce their cancer risk magnetic resonance imaging (MRI) mammography screening, medical mastectomy risk. The analyses were conducted both payer societal perspectives. This study October 1, 2022, February 20, 2024. Main Outcomes Measures interest cancer, additional heart disease deaths, ratio ICER per quality-adjusted life-year (QALY). One-way probabilistic-sensitivity-analyses (PSA) undertaken explore uncertainty. Results In simulated cohort 1 000 Canada, base case ICERs CAD $32 276 (US $23 402.84) QALY perspective or $16 416 $11 903.00) testing, well below established Canadian thresholds. Population remained cost-effective ages 40 60 but not at age 70 years. results robust multiple scenarios, 1-way sensitivity, PSA. More 99% simulations perspectives PSA (5000 simulations) $50 $36 254.25) willingness-to-pay threshold. could prevent an 2555 485 population, corresponding averting 196 163 population. Conclusions Relevance Canada findings suggest that changing genetic paradigm thousands cancers.
Language: Английский
Citations
0
Published: Jan. 1, 2024
Language: Английский
Citations
0