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A comprehensive approach can improve molecular analysis of PMS2 for patients with Lynch syndrome

Comprehensive Strategy IDs Mutation in Homologous Genes

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Approach can accurately detect mutations in genes with multiple copies of highly homologous sequences
Young black women have a higher rate of BRCA1 or BRCA2 gene mutations than previously believed

Higher Frequency of BRCA Mutations Seen in Black Women

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In study of those under 50 with invasive form of disease, 12 percent had BRCA1, BRCA2 mutations
Excision repair cross-complementing group 1 genotype for the single nucleotide polymorphism cytosine-to-thymine substitution at codon 118 interacts with post-radiotherapy plasma Epstein-Barr virus DNA to identify favorable prognosis for a subgroup of patients with nasopharyngeal carcinoma

ERCC1 SNP Can Identify Good Prognosis in Nasopharyngeal CA

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ERCC1 C118T genotype may identify good prognosis in subgroup of pEBV-negative patients
For adult patients with de novo acute myeloid leukemia

Genomic Approach Could Aid Risk Stratification in Adults With AML

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Persistent leukemia-linked mutations in remission samples tied to increased relapse, worse survival
For some

BRAF V600 Is Targetable in Some Nonmelanoma Cancers

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Vemurafenib active in NSCLC, Erdheim-Chester disease, Langerhans'-cell histiocytosis
A single nucleotide variant in the FTO obesity locus disrupts a conserved motif

Role of SNP Variant in FTO Explored in Obesity

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Study identifies mechanistic basis for the strongest genetic association with obesity
Most lice populations have point mutations that are linked to pyrethroid resistance

Most Lice Populations Show Resistance to Pyrethroids

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104 of 109 samples from 30 states were 100 percent resistant in three point mutations
Deleterious mutations in RAD51C and RAD51D genes are associated with increased risk of epithelial ovarian cancer

RAD51 Mutations Confer Moderate Risk of Ovarian Cancer

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RAD51C and RAD51D deleterious mutations linked to increased risk of epithelial ovarian cancer
The risk of acute graft-versus-host disease in hematopoietic stem cell transplantation with HLA-DPB1 mismatching is influenced by the HLA-DPB1 rs9277534 expression marker

Genetic Variant Ups Risk of Graft-Versus-Host Disease in HSCT

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Rejection seen with high-expression allele recipient, low-expression allele donor in HLA-DPB1 mismatches
Multigene testing for hereditary breast and/or ovarian cancer identifies more mutations that are likely to change clinical management

Multigene Test IDs More at Risk for Hereditary Breast/Ovarian CA

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Testing for mutations other than BRCA1/2 in HBOC may change clinical management for women, families