Clinical genetic testing was performed on over 10,000 consecutive cases referred for evaluation of germ-line cancer genes, and results were analyzed for frequency of pathogenic or likely pathogenic variants, and were stratified by testing panel, gene, and clinical history. Genet Med188, 823–832....
In conclusion, we assessed relatives of individuals with pathogenic or likely pathogenic variants in the ALPL gene regardless of the presence of signs and symptoms. Biochemical abnormalities were more common in gene-positive relatives, but the prevalence of musculoskeletal symptoms was comparable in ...
Purpose :Variant curation is limited for genes causing childhood cataracts, even for variants in crystallin genes, such as CRYAA, which commonly cause inherited cataracts. The purpose of this study is to review literature reports of CRYAA pathogenic/likely pathogenic (P/LP) variants associated with ...
A germline pathogenic / likely pathogenic variant (P/LP), in a gene relevant to the personal or family history of cancer, was detected in 15 patients (detection rate of 10%). 46.7% of those found to have the P/LP variants (7 of 15), or 4.6% of the entire set (7 of 152), did...
Pathogenic or likely pathogenic variants were detected in 10 of the 22 analyzed genes (Fig.2, Table2, Supplementary TableS3).NF1showed the highest prevalence (n = 8; 1% of cases); the majority of patients having CNS tumors.TP53had the second highest prevalence (n = 6; 0.76%),...
This cohort study uses data from the UK Biobank to assess the prevalence and clinical importance of pathogenic or likely pathogenic variants associated
Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts the pathogenicity of multi-type variants. MAGPIE uses the ClinVar dataset for training and demonst...
Of these 10 pathogenic variants, 5 (50.00%) were radical variants; the rest were missense variants. All of the missense variants were damaging based on in silico predictions. Except for SCN5A-G452C, the other 9 variants were all pathogenic or likely pathogenic according to ACMG in VarSome. ...
Over the past 20 years scientists have discovered hundreds of thousands of variants that could cause a variety of diseases. However, due to the nature of these discoveries, it has been difficult to estimate — or provide statistics on — the true risk of this happening for each gene variant....
Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report The Lynch syndrome (LS) is an autosomal dominant condition usually characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes. Despit... L Zum...