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Prevalence of deleterious variants in the selected genes.

Figshare2017-10-21 更新2026-04-29 收录

遗传性癌症

致病性变异筛查

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https://figshare.com/articles/dataset/Prevalence_of_deleterious_variants_in_the_selected_genes_/5520460 数据链接链接失效反馈

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No deleterious variants were observed in BARD1, CDH1, MLH1, PMS2, PTEN, STK11 and TP53.

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创建时间：

2017-10-21

基因突变

遗传性癌症

In this study, we used next generation sequencing combined with continuous culture to track the mutation rate of ~200 variants of Msh2 in Saccharomyces cerevisiae in order to determine pathogenicity.

NIAID Data Ecosystem70

Table1_Public Interest in Population Genetic Screening for Cancer Risk.xlsx

遗传性癌症

公众健康

An emerging role for DNA sequencing is to identify people at risk for an inherited cancer syndrome in order to prevent or ameliorate the manifestation of symptoms. Two cancer syndromes, Hereditary Bre

NIAID Data Ecosystem50

ClinVar P/LP variants with allele frequencies exceeding 1/200 within seven founder populations in NYC.

群体遗传学

致病性变异筛查

ClinVar P/LP variants with allele frequencies exceeding 1/200 within seven founder populations in NYC.

Figshare2025-06-24 更新30

Additional file 3: of Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

遗传性癌症

基因突变

Table S2. List of Pathogenic/ Likely Pathogenic variants. (XLSX 51 kb)

DataCite Commons2020-08-27 更新70

Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation

遗传性癌症

早发性癌症分子诊断

Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phen

NIAID Data Ecosystem40

Prevalence of deleterious variants in the selected genes.

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