How Can the European Federation for Colposcopy Promote High Quality Colposcopy Throughout Europe?

Since its inception in 1998, the European Federation for Colposcopy (EFC) now comprises 26 member societies. Its principle aim is to promote high quality colposcopy throughout Europe with special emphasis on training, education and treatment. This review summarises EFC’s activities and achievements to date

Table_2_Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.XLS

Background: Esophageal squamous cell carcinoma (ESCC) is associated with poor prognosis and occurs with high frequency in China. The germline mutation profile in ESCC remains unclear, and therefore, the discovery of oncogenic alterations in ESCC is urgently needed. This study investigates the germline mutation profile and reveals associations among genotype-environment interactions in ESCC.Methods: Whole exome sequencing and follow-up analysis were performed in 77 matched tumor-normal ESCC specimens to examine the germline profiles. Additionally, associations among genotype-environment interactions were investigated.Results: We identified 84 pathogenic/likely pathogenic mutations and 51 rare variants of uncertain significance (VUS). Twenty VUS with InterVar evidence of a score of moderate pathogenicity (PM) 2/PM2+ supporting pathogenicity (PP) 1 were found to have pathogenic significance. CYP21A2 was the most frequently mutated gene, and the p.Gln319* variant was identified in 6.5% (5/77) of patients. The TP53 p.V197E mutation, located within the DNA binding domain, was found in 1.3% (1/77) of patients. In total, the 11.7% (9/77) of individuals with homologous recombination (HR) VUS were more likely to have well-differentiated tumors than those without (P = 0.003). The degree of lymph node metastasis was correlated with homologous recombination deficiency (HRD) and VUS group (P Conclusions: Our study identified the germline mutation profiles in ESCC, providing novel insights into the molecular pathogenesis of this disease. Our results may also serve as a useful resource for the exploration of the underlying mechanism of ESCC and may provide information for the prevention, diagnosis and risk management of ESCC.</p

Data_Sheet_1_Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.docx

Background: Esophageal squamous cell carcinoma (ESCC) is associated with poor prognosis and occurs with high frequency in China. The germline mutation profile in ESCC remains unclear, and therefore, the discovery of oncogenic alterations in ESCC is urgently needed. This study investigates the germline mutation profile and reveals associations among genotype-environment interactions in ESCC.Methods: Whole exome sequencing and follow-up analysis were performed in 77 matched tumor-normal ESCC specimens to examine the germline profiles. Additionally, associations among genotype-environment interactions were investigated.Results: We identified 84 pathogenic/likely pathogenic mutations and 51 rare variants of uncertain significance (VUS). Twenty VUS with InterVar evidence of a score of moderate pathogenicity (PM) 2/PM2+ supporting pathogenicity (PP) 1 were found to have pathogenic significance. CYP21A2 was the most frequently mutated gene, and the p.Gln319* variant was identified in 6.5% (5/77) of patients. The TP53 p.V197E mutation, located within the DNA binding domain, was found in 1.3% (1/77) of patients. In total, the 11.7% (9/77) of individuals with homologous recombination (HR) VUS were more likely to have well-differentiated tumors than those without (P = 0.003). The degree of lymph node metastasis was correlated with homologous recombination deficiency (HRD) and VUS group (P Conclusions: Our study identified the germline mutation profiles in ESCC, providing novel insights into the molecular pathogenesis of this disease. Our results may also serve as a useful resource for the exploration of the underlying mechanism of ESCC and may provide information for the prevention, diagnosis and risk management of ESCC.</p

Table_1_Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.XLSX

Background: Esophageal squamous cell carcinoma (ESCC) is associated with poor prognosis and occurs with high frequency in China. The germline mutation profile in ESCC remains unclear, and therefore, the discovery of oncogenic alterations in ESCC is urgently needed. This study investigates the germline mutation profile and reveals associations among genotype-environment interactions in ESCC.Methods: Whole exome sequencing and follow-up analysis were performed in 77 matched tumor-normal ESCC specimens to examine the germline profiles. Additionally, associations among genotype-environment interactions were investigated.Results: We identified 84 pathogenic/likely pathogenic mutations and 51 rare variants of uncertain significance (VUS). Twenty VUS with InterVar evidence of a score of moderate pathogenicity (PM) 2/PM2+ supporting pathogenicity (PP) 1 were found to have pathogenic significance. CYP21A2 was the most frequently mutated gene, and the p.Gln319* variant was identified in 6.5% (5/77) of patients. The TP53 p.V197E mutation, located within the DNA binding domain, was found in 1.3% (1/77) of patients. In total, the 11.7% (9/77) of individuals with homologous recombination (HR) VUS were more likely to have well-differentiated tumors than those without (P = 0.003). The degree of lymph node metastasis was correlated with homologous recombination deficiency (HRD) and VUS group (P Conclusions: Our study identified the germline mutation profiles in ESCC, providing novel insights into the molecular pathogenesis of this disease. Our results may also serve as a useful resource for the exploration of the underlying mechanism of ESCC and may provide information for the prevention, diagnosis and risk management of ESCC.</p

Supplementary File from Genome-wide DNA Methylation Analysis Reveals <i>GABBR2</i> as a Novel Epigenetic Target for <i>EGFR</i> 19 Deletion Lung Adenocarcinoma with Induction Erlotinib Treatment

Supplementary Methods and Figure legend of Supplementary Figure S1.</p

Table S2 from Genome-wide DNA Methylation Analysis Reveals <i>GABBR2</i> as a Novel Epigenetic Target for <i>EGFR</i> 19 Deletion Lung Adenocarcinoma with Induction Erlotinib Treatment

Sixty erlotinib-related aberrant DNA methylation genes in both patients discovered with the the methyl-sensitive cut counting sequencing (MSCC) screening method.</p

Table S3 from Genome-wide DNA Methylation Analysis Reveals <i>GABBR2</i> as a Novel Epigenetic Target for <i>EGFR</i> 19 Deletion Lung Adenocarcinoma with Induction Erlotinib Treatment

DNA methylation results of GABAA receptor families was relatively conservative before and after erlotinib treatment in both patients using methyl-sensitive cut counting sequencing (MSCC) screening method.</p

Figure S1 from Genome-wide DNA Methylation Analysis Reveals <i>GABBR2</i> as a Novel Epigenetic Target for <i>EGFR</i> 19 Deletion Lung Adenocarcinoma with Induction Erlotinib Treatment

The results proved that the whole-genome DNA methylation sequencing results were accurate and reliable from different aspects.</p

Table S1 from Genome-wide DNA Methylation Analysis Reveals <i>GABBR2</i> as a Novel Epigenetic Target for <i>EGFR</i> 19 Deletion Lung Adenocarcinoma with Induction Erlotinib Treatment

Data summary of methyl-sensitive cut counting sequencing (MSCC) sequencing of the 4 samples (8 libraries).</p

Regional plots of the two loci associated with telomere length.

<p>Results are shown for the 12q13.13 (a) and 5p15.33 (b) regions. Top, −log₁₀<i>P</i> values are shown for SNPs for the region 350 kb on either side of the marker SNPs. <i>P</i>_GWAS is for results obtained from the discovery stage and is shown for genotyped (circle). <i>P</i>_{GWAS-Rep1-Rep2} is for results obtained from the combination of the initial and replication study data (diamond). The marker SNP is shown in purple, and the <i>r</i>² values of the other SNPs are indicated by color. The genes within the relevant regions are annotated and shown as arrows.</p