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Pathogenic mutations
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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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Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway.
13p
vibransone
28-03-2024
6
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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Stopgain substitutions are the third-largest class of monogenic human disease mutations and often examined first in patient exomes. Existing computational stopgain pathogenicity predictors, however, exhibit poor performance at the high sensitivity required for clinical use.
11p
viellison
28-03-2024
3
2
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Acral and mucosal melanomas are aggressive subtypes of melanoma, which have a significantly lower burden of somatic mutations than cutaneous melanomas, but more frequent copy number variations, focused gene amplifications, and structural alterations. The landscapes of their genomic alterations remain to be fully characterized.
16p
viellison
28-03-2024
6
2
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Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions.
15p
viellison
28-03-2024
4
2
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
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Non-invasive prenatal testing (NIPT) as a screening method for common chromosomal abnormalities such as trisomy 21, 18, and 13 has been widely adopted. In the last five years, the possibility of NIPT to detect common single-gene disorders (SGD) due to de novo mutations or paternal inherited had been reported worldwide.
8p
vilarry
12-03-2024
1
1
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Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due to severe neurological complications.
5p
vitiki
30-01-2024
7
2
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Distant metastasis remains the main cause of death in breast cancer. Breast cancer risk is strongly influenced by pathogenic mutation. This study was designed to develop a multiple-feature model using clinicopathological and imaging characteristics adding pathogenic mutations associated signs to predict recurrence or metastasis in breast cancers in high familial risk women.
13p
vischultz
20-10-2023
4
1
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Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder affecting individuals with biallelic pathogenic mutations in the MEFV gene. The disease is characterized by recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain.
4p
viintuit
26-09-2023
0
0
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Lactic acid bacteria widely used in food preservation at refrigerator temperatures due to their ability produce high amount of hydrogen peroxide and/or other antibacterial substances at refrigerator temperatures to inhibit food-borne pathogens and psychrophilic spoilage microorganisms. In order to improve of bio-preservation efficacy of Lactobacillus acidophilus GH 201 mutations causing resistance to rifampicin (rif) were used.
6p
viisac
23-09-2023
2
1
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Infectious bursal disease, also known as Gumboro disease, is a persistent infection that causes severe economic losses in poultry worldwide. The causative agent, infectious bursal disease virus (IBDV), is an immunosuppressive pathogen that frequently mutated and reassorted, generating various genotypes during its evolution.
15p
vimulcahy
18-09-2023
7
3
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The application of WES in identifying mutations in ADPKD has been widely performed by researchers worldwide; however, in Vietnam, the utilization of WES in ADPKD studies is still limited. In this study, we applied WES to identify pathogenic variants for Vietnamese ADPKD patients and validated the obtained variants in the family using Sanger sequencing.
7p
vihawkeye
26-05-2023
8
2
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Monogenic diabetes is a genetic disease often caused by mutations in genes involved in beta-cell function. Correct sub-categorization of the disease is a prerequisite for appropriate treatment and genetic counseling.
9p
vinarcissa
21-03-2023
5
1
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The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification
Pancreatic ductal adenocarcinoma (PDAC) is the major subtype of pancreatic cancer and head PDACs show distinct characteristics from body/tail PDACs. With limited studies based on Asian population, the mutational landscape of Asian PDAC remains unclear.
12p
vikolindagrabar
27-07-2022
5
2
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This study was to determine the prevalence and clinical significance of clonal hematopoiesis (CH)related variants, and somatic and germline mutations in cancer patients and healthy individuals.
9p
vikolindagrabar
27-07-2022
2
1
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Homologous recombination deficiency (HRD) is a molecular biomarker for administrating PARP inhibitor (PARPi) or platinum-based (Pt) chemotherapy. The most well-studied mechanism of causing HRD is pathogenic BRCA1/2 mutations, while HRD phenotype is also present in patients without BRCA1/2 alterations, suggesting other unknown factors.
11p
viangelamerkel
27-07-2022
6
1
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Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority of pathogenic expansions.
13p
vigalileogalilei
27-02-2022
16
1
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Porcine circovirus type 2 (PCV2) is an immunosuppressive pathogen with high prevalence rate in pig farms. It has caused serious economic losses to the global pig industry. Due to the rapid mutation of PCV2 strain and co-infection of different genotypes, vaccination could not eradicate the infection of PCV2.
11p
vigandhi
23-02-2022
11
1
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