Journal: American Journal of Human Genetics

Article Title: Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

doi: 10.1016/j.ajhg.2022.11.004

Figure Lengend Snippet: Relative telomere length in peripheral blood mononuclear cells (PBMCs) of UM-affected individuals and controls according to rs452384 genotype Relative telomere length was measured by qPCR using primers for telomeric repeats and normalized to expression of a single copy gene, HMBS . Germline DNA samples (dots) from PBMCs of N = 208 male UM-affected individuals and N = 118 male healthy individuals from the GWAS cohort were used, stratified according to their rs452384 genotype. Number of individuals in each genotype group is indicated in brackets. Differences in telomere length were assessed using an age-adjusted generalized linear additive model (GLM) p value. Pairwise comparisons of telomere length (between two genotypes) are shown in Figure S4 .

Article Snippet: We measured relative telomere length by qPCR in germline DNA samples obtained from peripheral blood mononuclear cells (PBMCs) of 326 males with UM and healthy controls (KIDRISK study) from our GWAS in UM, for which the rs452384 genotype was known.

Techniques: Expressing

Journal: Oncotarget

Article Title: Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer

doi: 10.18632/oncotarget.22733

Figure Lengend Snippet: Characteristics of the patients included in this study

Article Snippet: In total, 230 germline DNA samples from unselected patients with OC that had been stored in the Keio Women's Health Biobank (KWB) in Keio University School of Medicine (Tokyo, Japan) were analyzed by targeted resequencing, using panels of 75 or 79 candidate OC-associated genes ( ).

Techniques: Variant Assay

Journal: Oncotarget

Article Title: Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer

doi: 10.18632/oncotarget.22733

Figure Lengend Snippet: List of pathogenic germline variants in tested genes and clinicopathological features of patients with OC

Article Snippet: In total, 230 germline DNA samples from unselected patients with OC that had been stored in the Keio Women's Health Biobank (KWB) in Keio University School of Medicine (Tokyo, Japan) were analyzed by targeted resequencing, using panels of 75 or 79 candidate OC-associated genes ( ).

Techniques:

Journal: Oncotarget

Article Title: Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer

doi: 10.18632/oncotarget.22733

Figure Lengend Snippet: Correlation between patient characteristics and pathogenic germline variants in BRCA1/2 or any tested genes among 230 patients with OC a

Article Snippet: In total, 230 germline DNA samples from unselected patients with OC that had been stored in the Keio Women's Health Biobank (KWB) in Keio University School of Medicine (Tokyo, Japan) were analyzed by targeted resequencing, using panels of 75 or 79 candidate OC-associated genes ( ).

Techniques: Mutagenesis

Journal: Oncotarget

Article Title: Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer

doi: 10.18632/oncotarget.22733

Figure Lengend Snippet: Multivariate analysis to determine predictive clinicopathological factors of pathogenic germline variants of BRCA1/2 or any tested genes in 180 patients with OC and a detailed family history a

Article Snippet: In total, 230 germline DNA samples from unselected patients with OC that had been stored in the Keio Women's Health Biobank (KWB) in Keio University School of Medicine (Tokyo, Japan) were analyzed by targeted resequencing, using panels of 75 or 79 candidate OC-associated genes ( ).

Techniques: Variant Assay