Unlocking the role of miR-17: Driving G1-S cell cycle transition in oral tongue cancer through integrated bioinformatics and laboratory analyses.

Objective: This study aims to identify miRNA-mediated regulation of the cell cycle in oral tongue cancer.

Methods: Comprehensive computational analysis was performed on the GEO dataset "GSE168227". DIANA Tool-mir path v.

Association between the variations in metabolic pathways and oral cancer risk: results from a Pakistani case-control study.

Background: Oral cancer (OC) is a significant global health concern, with Pakistan ranking 5th worldwide in OC incidence. Given the poor prognosis, early detection of at-risk individuals is crucial. Genetic factors, particularly single nucleotide polymorphisms (SNPs) in metabolic genes, may influence OC susceptibility.

Straight-to-Test Pathway in Faecal Immunochemical Testing (FIT)-Negative Patients: A Cost-Effective Approach.

Introduction: Colorectal cancer (CRC) is the fourth most common malignancy in the UK and represents a high-volume diagnostic and clinical burden on the National Health Service (NHS). To maximise the use of limited diagnostic resources and increase efficiency, the colorectal services at University Hospitals North Midlands Trust (UHNM) developed the triage-to-test (TTT) service with risk stratification for diagnostic testing in patients with suspected colorectal cancer using faecal immunochemical testing (FIT) result. Our retrospective cohort study looked at the pick-up rate of colorectal cancer (CRC) and non-colorectal cancer (non-CRC) in FIT-negative patients.

Faecal Immunochemical Test (FIT) Value-Based Algorithm to Triage Symptomatic Colorectal Patients: A Retrospective Study From a Tertiary Care Hospital.

Background The aim was to evaluate the diagnostic accuracy of quantitative faecal immunochemical testing (FIT) in diagnosing colorectal cancer in symptomatic patients and using it to prioritize patients for urgent colorectal investigations. Methods A retrospective review was done of all symptomatic, FIT-positive patients referred from primary care to the colorectal clinic as per the National Institute for Health and Care Excellence (NICE) DG30 pathway from November 1, 2021, to February 11, 2022. Patients under 18 years of age were excluded.

Statistical analysis of topological indices in linear phenylenes for predicting physicochemical properties using algorithms.

QSPR mathematically links physicochemical properties with the structure of a molecule. The physicochemical properties of chemical molecules can be predicted using topological indices. It is an effective method for eliminating costly and time-consuming laboratory tests.

Marginal Contribution of Pathogenic Germline Variants to Pakistani Early-Onset and Familial Breast/Ovarian Cancer Patients.

Introduction: has been reported as a breast cancer (BC) and ovarian cancer (OC) predisposition gene, particularly among Caucasian populations. We studied the prevalence of variants in Pakistani BC/OC patients.

Materials And Methods: In total, 371 young or familial BC/OC patients were thoroughly analyzed for sequence variants using denaturing high-performance liquid chromatography pursued by DNA sequencing of differentially eluted amplicons.

Predominance of MGMT promoter methylation among Pakistani glioblastoma patients.

Background: Glioblastoma multiforme (GBM), the most prevalent subgroup of neuroepithelial tumors, is characterized by dismal overall survival (OS). Several studies have linked O6-methylguanine-DNA-methyltransferase (MGMT) promoter methylation to OS in GBM patients. However, MGMT methylation frequencies vary geographically and across ethnicities, with limited data for South Asian populations, including Pakistan.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).

Methods: We analyzed >22 million variants for 398,238 women.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction.

The 313-variant polygenic risk score (PRS) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank.

Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.

Background: BRCA1 and BRCA2 (BRCA1/2) are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas limited reports are available among Asians. We aimed to investigate the prevalence of BRCA1/2 germline variants in Pakistani pancreatic cancer patients.

Methods: One hundred and fifty unselected and prospectively enrolled pancreatic cancer patients were comprehensively screened for BRCA1/2 germline variants using denaturing high-performance liquid chromatography and high-resolution melting analyses, followed by DNA sequencing of the variant fragments.

prediction of non-synonymous variants and their impact on binding affinity to Fresolimumab.

TGF-β1 is a potent immunoregulatory cytokine that plays diverse roles in development, bone healing, fibrosis, and cancer. However, characterizing gene variants is challenging because the structural and functional consequences of these variants are still undetermined. In this study, we aimed to perform an analysis of non-synonymous variants and their pathogenic effects on the TGF-β1 protein.

The Short- and Long-Term Safety and Efficacy Profile of Subtotal Cholecystectomy: A Single-Centre, Long-Term, Follow-Up Study.

Background Subtotal cholecystectomy (STC) has been reported as an effective method to remove the gallbladder if the hepatocystic triangle anatomy is unfavourable. However, the evidence regarding its long-term outcomes from the United Kingdom (UK) is lacking. This study aimed to assess its short and long-term outcomes with a minimum of one-year follow-up.

Systemic Diseases and Gastrointestinal Cancer Risk.

Importance: Gastrointestinal (GI) cancers are the second leading cause of cancer-related deaths worldwide.

Observations: The global challenges GI cancers pose are high, especially in middle- and low-income countries. Patients with these cancers present with symptoms of poor appetite, weight loss, heartburn, abdominal pain, fatigue and anaemia.

Contribution of constitutional BRCA1 promoter methylation to early-onset and familial breast cancer patients from Pakistan.

Purpose: Constitutional BRCA1 promoter methylation has been identified as a potential risk factor for breast cancer (BC) in the Caucasian population. However, this data is lacking for BC patients of Asian origin. Therefore, we assessed the contribution of constitutional BRCA1 promoter methylation in Pakistani BC patients.

Genetic analysis of ACE2 peptidase domain in SARS-CoV-2-positive and SARS-CoV-2-negative individuals from Pakistan.

Background: The outbreak of coronavirus disease 2019 (COVID-19) has emerged as a serious public health emergency of global concern. Angiotensin converting enzyme 2 (ACE2) peptidase domain is important for the cellular entry of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Germline variants in ACE2 peptidase domain may influence the susceptibility for SARS-CoV-2 infection and disease severity in the host population.

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.

Breast cancer (BC) patients with a germline c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. We aimed to assess the associations of c.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry.

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.

Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.

Background: Partner and localizer of BRCA2 (PALB2) is a pancreatic cancer (PC) susceptibility gene reported in Caucasians. However, limited data are available among Asians. We investigated the contribution of PALB2 germline variants to Pakistani PC patients.

Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.

The Fanconi anemia complementation group M (FANCM) gene is a potential candidate for breast/ovarian cancer susceptibility in European populations. Here, we examined the contribution of FANCM germline variants to hereditary breast and/or ovarian cancer in Pakistan. Comprehensive FANCM variant screening was performed in 201 BRCA1 and BRCA2 (BRCA1/2) negative Pakistani patients with and without triple-negative breast cancer (TNBC) and/or ovarian cancer, using denaturing high-performance liquid chromatography analysis (DHPLC) followed by DNA sequencing.