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Mutation pattern
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Breast cancer is a common cause for central nervous system (CNS) metastasis, resulting in a significant reduction in overall survival. Germline pathogenic variants (PVs) in BRCA1/2 are the most common genetic risk factor for breast cancer, associated with poor prognostic factors. This study sought to explore the patterns and outcome of CNS metastases in breast cancer patients with germline PVs in BRCA1/2 genes.
12p
vikoch
27-06-2024
1
1
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We aimed to identify the T790M mutation rate and clinical factors predicting the occurrence of acquired T790M mutations in advanced non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations after first- and secondgeneration tyrosine kinase inhibitor (TKI) treatment.
9p
vicarlos
16-05-2024
1
0
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The expression of antigens that are recognized by self-reactive T cells is essential for immune-mediated tumor rejection by immune checkpoint blockade (ICB) therapy. Growing evidence suggests that mutation-associated neoantigens drive ICB responses in tumors with high mutational burden.
10p
vibransone
28-03-2024
6
2
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Knowing the activity of the mutational processes shaping a cancer genome may provide insight into tumorigenesis and personalized therapy. It is thus important to characterize the signatures of active mutational processes in patients from their patterns of single base substitutions.
12p
vibransone
28-03-2024
9
2
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We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome.
17p
vibransone
28-03-2024
5
2
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Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.
10p
vioraclene
31-03-2024
8
2
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There has been a growing appreciation recently that mutagenic processes can be studied through the lenses of mutational signatures, which represent characteristic mutation patterns attributed to individual mutagens.
15p
vicwell
29-02-2024
7
1
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Our review discuss (i) the findings from analyzed data that have examined KRAS, NRAS and BRAF mutations in patients with colorectal cancer (CRC) in North Africa and to compare its prevalence with that shown in other populations and (ii) the possible role of dietary and lifestyle factors with CRC risk.
14p
vileonardodavinci
23-12-2023
4
2
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Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.
197p
oursky09
08-11-2023
7
3
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To clarify the relationship between p53 immunohistochemistry (IHC) staining and TP53 alterations (including mutations and deletions) in large B-cell lymphomas (LBCLs) and to explore the possibility of p53 IHC expression patterns as surrogate markers for TP53 alterations.
11p
visharma
20-10-2023
4
2
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We aimed to examine whether patients with de novo and relapsed/progressed stage IIIB–IV non-small cell lung cancer (NSCLC) without epidermal growth factor receptor (EGFR) or anaplastic lymphoma kinase (ALK) mutations have different prognoses.
12p
visharma
20-10-2023
6
2
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Liver metastasis is a poor prognostic factor for treatment of advanced cutaneous melanoma with either immunotherapy or targeted therapies. In this study we focused on NRAS mutated melanoma, a cohort with high unmet clinical need.
16p
visharma
20-10-2023
7
2
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Part 1 book "Genetics in medicine" includes content: Introduction to the human genome; the human genome, human genetic diversity - mutation and polymorphism; principles of clinical cytogenetics and genome analysis; the chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes; patterns of single gene inheritance,.... and other contents.
197p
oursky05
20-09-2023
4
1
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The landscape of non-small cell lung cancer (NSCLC) therapy is rapidly changing. This analysis aimed to understand patient characteristics, diagnosis and treatment patterns in patients with metastatic NSCLC (mNSCLC) without EGFR and ALK mutations across fve European countries.
20p
vioracle
29-09-2023
4
3
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Electrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spikewave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epilepsy aphasia spectrum.
15p
vinarcissa
21-03-2023
5
1
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Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns in Japanese families with MO.
7p
vinarcissa
21-03-2023
4
1
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The Phenomenon of codon usage bias exists in the genomes of prokaryotes and eukaryotes. The codon usage pattern is afected by environmental factors, base mutation, gene fow and gene expression level, among which natural selection and mutation pressure are the main factors. The study of codon preference is an efective method to analyze the source of evolutionary driving forces in organisms.
10p
vihagrid
30-01-2023
10
3
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The clinical features, survival outcomes and patterns of treatment failure of advanced non-small cell lung cancer (NSCLC) patients harboring distinct subtypes of EGFR mutations and receiving first-line EGFR tyrosine kinases inhibitor (TKIs) are not fully understood.
11p
vipriyankagandhi
27-07-2022
3
1
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B7 molecules play significant roles in regulating tumor immunity, but their expression patterns and immuno-biological correlations in pancreatic cancer (PaCa) have not been fully discussed. RNA-sequencing data of B7 molecules of PaCa samples in the Cancer Genome Atlas (TCGA) dataset was downloaded from the UCSC Xena to assess the expression, correlation, and mutation of the B7 family in PaCa.
10p
visusanwojcicki
28-06-2022
10
3
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Chromatin loops form a basic unit of interphase nuclear organization, with chromatin loop anchor points providing contacts between regulatory regions and promoters. However, the mutational landscape at these anchor points remains under-studied. Here, we describe the unusual patterns of somatic mutations and germline variation associated with loop anchor points and explore the underlying features influencing these patterns.
14p
vigalileogalilei
27-02-2022
15
1
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