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Mutation frequencies
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APOBEC-driven mutagenesis and functional positive selection of mutated genes may synergistically drive the higher frequency of some hotspot driver mutations compared to other mutations within the same gene, as we reported for FGFR3 S249C. Only a few APOBEC-associated driver hotspot mutations have been identified in bladder cancer (BCa).
20p
vibransone
28-03-2024
6
2
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In high-grade serous ovarian cancer (HGSOC), intrinsic and/or acquired resistance against platinumcontaining chemotherapy is a major obstacle for successful treatment. A low frequency of somatic mutations but frequent epigenetic alterations, including DNA methylation in HGSOC tumors, presents the cancer epigenome as a relevant target for innovative therapy.
15p
vioraclene
31-03-2024
4
2
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The clinical utility of molecular profiling of tumor tissue to guide treatment of patients with advanced solid tumors is unknown. Our objectives were to evaluate the frequency of genomic alterations, clinical “actionability” of somatic variants, enrollment in mutation-targeted or other clinical trials, and outcome of molecular profiling for advanced solid tumor patients at the Princess Margaret Cancer Centre (PM).
12p
vioraclene
31-03-2024
5
2
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The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. With certain exceptions, such as founder mutations, the rarity of a variant is a prerequisite for pathogenicity.
14p
vioraclene
31-03-2024
7
2
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Dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by SCN1A gene mutations. It leads to neurodevelopmental delays and motor, behavioral, and cognitive impairments, with a high mortality rate.
6p
vitiki
30-01-2024
4
2
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This study was designed to investigate the frequency and clinicopathological characteristics of POLEmutated/ultramutated (POLEmut) in endometrial carcinoma (EC) and assess the prognostic values of POLE status.
15p
vileonardodavinci
23-12-2023
2
2
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Pulmonary pleomorphic carcinoma (PPC) is a rare type of non-small cell lung cancer characterized by high malignancy and a poor prognosis. PPC is associated with a high frequency of postoperative relapse, and shows resistance to chemotherapy.
10p
vileonardodavinci
23-12-2023
3
3
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Tumour mutation burden (TMB), defined as the number of somatic mutations per megabase within the sequenced region in the tumour sample, has been used as a biomarker for predicting response to immune therapy.
9p
vileonardodavinci
23-12-2023
5
4
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To determine the frequency of H1047R mutation on exon 20 PIK3CA gene in the plasma of hormone recepter positive (HR+) breast cancer (BC) women and its relationship with clinical characteristics of these patients. Subjects: Plasma was separated from venous blood of 141 female HR+ BC patients, have been treating at 108 Military Central Hospital from June 2021 to June 2023.
9p
vigeorge
06-12-2023
2
2
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Heterozygous isocitrate dehydrogenase (IDH) mutations occur in about half of conventional central bone chondrosarcomas (CCBC). Aim of this study was to assess the frequency and prognostic impact of IDH mutations in high grade CCBC patients.
12p
vioracle
29-09-2023
2
2
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Bangladesh lies in the global thalassemia belt, which has a defined mutational hot-spot in the betaglobin gene. The high carrier frequencies of beta-thalassemia trait and hemoglobin E-trait in Bangladesh necessitate a reliable DNA-based carrier screening approach that could supplement the use of hematological and electrophoretic indices to overcome the barriers of carrier screening.
12p
vinarcissa
21-03-2023
2
1
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Congenital hearing loss (CHL) is diagnosed in 1 – 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide.
12p
vinarcissa
21-03-2023
4
1
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This study was designed to investigate epidermal growth factor receptor (EGFR) mutation types affecting lung cancer treatment in patients in Xinjiang, China. We detected and analyzed differences in the EGFR mutation points of Uighur and Han patients with lung adenocarcinoma.
5p
vinarcissa
21-03-2023
4
1
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Phasing quality assessment in a brown layer population through family- and population-based software
Haplotype data contains more information than genotype data and provides possibilities such as imputing low frequency variants, inferring points of recombination, detecting recurrent mutations, mapping linkage disequilibrium (LD), studying selection signatures, estimating IBD probabilities, etc.
11p
vihagrid
30-01-2023
6
3
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Next-generation sequencing (NGS) has profoundly changed the approach to genetic/genomic research. Particularly, the clinical utility of NGS in detecting mutations associated with disease risk has contributed to the development of effective therapeutic strategies.
10p
vihagrid
30-01-2023
8
3
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In this study, 131 gastric biopsies were taken from patients with gastritis who came to Hai Duong Provincial General Hospital for examination and treatment by request from January 2015 to July 2015 and they met the criteria: i) aged from 18-80; ii) infected with chronic gastritis, ulcer or gastric cancer; iii) not using antibiotic for a month before endoscopy.
3p
vijaguar
16-11-2022
2
1
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Many previous studies have demonstrated that minor-frequency pretreatment T790M mutation (preT790M) could be detected by ultrasensitive methods in a considerable number of treatment-naïve, epidermal growth factor receptors (EGFR)-mutated, non-small cell lung cancer (NSCLC) cases.
11p
vikolindagrabar
27-07-2022
5
1
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In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial. By analyzing 22 gene-edited rabbit lines generated using CRISPR/Cas9, we provide evidence of exon skipping at high frequency in premature termination codon-mutated rabbits but not in the rabbits with a premature termination codon mutation in exon 1 rabbits with non-frameshift or missense mutations.
5p
vigalileogalilei
27-02-2022
11
1
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Sequencing errors are key confounding factors for detecting low-frequency genetic variants that are important for cancer molecular diagnosis, treatment, and surveillance using deep next-generation sequencing (NGS). However, there is a lack of comprehensive understanding of errors introduced at various steps of a conventional NGS workflow, such as sample handling, library preparation, PCR enrichment, and sequencing. In this study, we use current NGS technology to systematically investigate these questions.
15p
vigalileogalilei
27-02-2022
14
2
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Structural variants (SVs) are known to play important roles in a variety of cancers, but their origins and functional consequences are still poorly understood. Many SVs are thought to emerge from errors in the repair processes following DNA double strand breaks (DSBs).
15p
vigalileogalilei
27-02-2022
9
1
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