Cancer genetics

This study presents the development of a software support system aimed at improving targeted treatment outcomes in non-small cell lung cancer (NSCLC) by utilizing genetic mutation analysis data. PubMed BERT model were generated to identify tumor gene mutated features associated with gene-drug responses.

14p vinatisu 23-08-2024 4 1   Download

The research project deals with two different types of data for two separate analysis. The first analysis deals with normalised RNA-seq breast cancer data where machine learning techniques are used to classify and identify the biomarker of cancer. Second analysis deals with raw DNA methylated leukemia samples to determine the mutations.

102p runthenight04 02-02-2023 5 3   Download

Osteosarcoma (OS) is a differentiation disease caused by the genetic and epigenetic differentiation of mesenchymal stem cells into osteoblasts. OS is a common, highly malignant tumor in children and adolescents. Fifteen to 20 % of the patients find distant metastases at their first visit.

13p vielonmusk 21-01-2022 21 0   Download

Wilms tumor is a highly heritable malignancy. Aberrant METTL14, a critical component of N6-meth‑ yladenosine (m6 A) methyltransferase, is involved in carcinogenesis. The association between genetic variants in the METTL14 gene and Wilms tumor susceptibility remains to be fully elucidated.

10p vielonmusk 21-01-2022 20 0   Download

Microvascular invasion (MVI) adversely affects postoperative long-term survival outcomes in patients with hepatocellular carcinoma (HCC). There is no study addressing genetic changes in HCC patients with MVI.

11p vielonmusk 21-01-2022 22 1   Download

Patients with pathogenic sequence variants (PSVs) in BRCA1/BRCA2 are at high risk of developing ovarian cancer (OC). However, genetic testing for BRCA1/BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of epidemiological studies in the region, we aim to describe the prevalence of BRCA1/BRCA2 PSVs in patients with OC across diferent countries in the Gulf region.

8p vielonmusk 21-01-2022 9 1   Download

We sought to understand the clinical course and molecular phenotype of patients who showed disease progression after programmed cell death ligand 1 (PD-L1) inhibitor treatment but subsequently responded to PD-1 inhibitor treatment. We also explored the response to PD-1-axis targeted therapy of classical Hodgkin lymphoma (cHL) according to genetically driven PD-L1 and programmed cell death ligand 2 (PD-L2) expression.

8p vielonmusk 21-01-2022 15 1   Download

Cancer-related fatigue (CRF) is one of the most common and distressing complaints reported by cancer patients during chemotherapy considerably impacting all aspects of a patient’s life (physical, psychosocial, professional, and socioeconomic).

11p vielonmusk 21-01-2022 13 1   Download

Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes

9p vielonmusk 21-01-2022 15 0   Download

Melanoma-intrinsic activated β-catenin pathway, the product of the catenin beta 1 (CTNNB1) gene, has been associated with low/absent tumor-infiltrating lymphocytes, accelerated tumor growth, metastases development, and resistance to anti-PD-L1/anti-CTLA-4 agents in mouse melanoma models.

14p vielonmusk 21-01-2022 10 0   Download

Risk prediction models incorporating single nucleotide polymorphisms (SNPs) could lead to individualized prevention of colorectal cancer (CRC). However, the added value of incorporating SNPs into models with only traditional risk factors is still not clear. Hence, our primary aim was to summarize literature on risk prediction models including genetic variants for CRC, while our secondary aim was to evaluate the improvement of discriminatory accuracy when adding SNPs to a prediction model with only traditional risk factors.

21p vielonmusk 21-01-2022 14 1   Download

Microsatellite instability (MSI) is a key marker for predicting the response of immune checkpoint inhibitors (ICIs) and for screening Lynch syndrome (LS). Aim: This study aimed to see the characteristics of cancers with high level of MSI (MSI-H) in genetic medicine and precision medicine.

12p vielonmusk 21-01-2022 10 0   Download

Lung cancer (LC) is the most commonly diagnosed cancer and the leading cause of cancer-related death in both sexes worldwide. Although the principal risk factor in the western world is tobacco smoking, genetic factors, including alpha-1 antitrypsin deficiency (AATD), have been associated with increased risk.

7p vielonmusk 21-01-2022 9 1   Download

Single-nucleotide polymorphisms (SNP) are common genetic changes in the human genome. In recent time, many scientists have shown their interests in studies on SNPs’ roles in the pathological risk especially in cancer and metabolic diseases.

27p tamynhan0 15-06-2020 18 1   Download

Breast cancer (BC), the most common type of cancer among women worldwide, is a polygenetic disease which is caused by the interaction of several genes. Understanding the genetic factors for early diagnosis of BC is crucial to ensure the survival of BC patients. MicroRNA 27a (miR-27a), an oncogenic miRNA, has been predicted to target on the tumor suppressor ZBTB10 that can regulate many processes of cell.

11p bautroibinhyen17 13-02-2017 48 2   Download

Khóa luận này đề xuất một mô hình học máy cho bài toán trích chọn sự kiện y sinh phức hợp và áp dụng vào Cancer Genetics (CG) task – một bài toán trích chọn thông tin trong BioNLP Shared Task (ST) 2013.

53p mercury2 21-12-2013 56 11   Download

P-glycoprotein (Pgp), a membrane pump often responsible for the multidrug resistance of cancer cells, undergoes conformational changes in the presence of substrates/modulators, or upon ATP depletion, reflected by its enhanced reactivity with the UIC2 monoclonal antibody. When the UIC2-shift was elicited by certain modulators (e.g. cyclosporin A or vinblastine, but not with verapamil or Tween 80), the subsequent binding of other monoclonal anti-Pgp Ig sharing epitopes with UIC2 (e.g. MM12.10) was abolished [Nagy, H., Goda, K., Arceci, R., Cianfriglia, M., ´ Mechetner, E. & Szabo Jr, G.

6p system191 01-06-2013 62 7   Download

Tyrosyl-DNA phosphodiesterase (TDP) cleaves the phosphodiester bond linking the active site tyrosine residue of topoisomerase I with the 3¢ terminus of DNA in topoisomerase I–DNA complexes which accumulate during treatment of cancer with camptothecin. In yeast, TDP mutation confers a 1000-fold hypersensitivity to camptothecin in the presence of an additional mutation of RAD9 gene [Pouliot, J.J., Yao, K.C., Robertson, C.A. & Nash, H.A. (1999) Science 286, 552–555].

8p research12 01-06-2013 32 2   Download

Matrix metalloproteinase (MMP)-3 inhibited human MDA-MB-231 breast cancer cell invasion through recon-stituted basement membranein vitro. Inhibition of invasion was dependent upon plasminogen and MMP-3 activation, was impaired by the peptide MMP-3 inhibitor Ac-Arg-Cys-Gly-Val-Pro-Asp-NH2 and was associated with: rapid MMP-3-mediated plasminogen degradation to microplas-minogen and angiostatin-like fragments;

8p research12 23-04-2013 34 3   Download

A sialylated lacto-N-neotetraose (Sial-lNnT) structural unit was identified and structurally characterized in the lipo-polysaccharide (LPS) from the genome-sequenced strain Road (RM118) of the human pathogenHaemophilus influ-enzaegrown in the presence of sialic acid. A combination of molecular genetics, MS and NMR spectroscopy techniques showed that this structural unit extended from the proximal heptose residue of the inner core regionof theLPSmolecule.

11p research12 23-04-2013 36 2   Download