Cyst with loss of heterozygosity.

<p>Electropherograms showing the heterozygous germline mutation <i>SEC63</i> c.958G>T and two neighbouring SNPs in control liver tissue (A) and in the homozygous liver cyst (B) of patient 3, indicating loss of heterozygosity at <i>SEC63</i> c.958G>T and SNP rs675117 in the cyst. The relative locations of the different SNPs are shown, with a close up of the genomic region surrounding the germline mutation (C). The SNPs which remain heterozygous in the cyst with LOH are depicted in blue, SNPs with LOH are depicted in red on the chromosome (C). Immunohistochemical analysis shows the expression of SEC63 and hepatocystin in a normal bile duct, a heterozygous liver cysts and the homozygous liver cyst with LOH at SEC63, in a paraffin-embedded formalin-fixed tissue section of patient #3 (D).</p

Allele frequency of <i>SEC63</i> c.1703_1705delAAG.

<p>Allele frequency and confidence interval of the <i>SEC63</i> c.1703_1705delAAG gene variant in genomic DNA from PCLD patients and healthy controls.</p

Somatic mutation analysis.

*<p>Age at time of surgery.</p

Characteristics of the study population.

<p>n = number of patients or controls; GI, gastrointestinal; SD = standard deviation; EAC = esophageal adenocarcinoma; ESCC = esophageal squamous cell carcinoma;</p>1<p><i>p</i>-value mean age = 0.000;</p>2<p><i>p</i>-value mean age = 0.001.</p

Sequences of primers and probes, including the optimal annealing temperature and MgCl₂-concentration.

<p>F = forward; R = reverse; WT = wild type; VAR = variant; the bold underlined letters represent the wild type (most common) allele (Allele 1) and the variant allele (Allele 2) in the WT probe and VAR probe, respectively.</p

Genotype distribution in patients with gastrointestinal cancer and controls.

<p>*Note that some patients or controls are missing because of failure of the genotyping.</p><p>**Adjusted for age.</p><p>GI, gastrointestinal; OR, odds ratio; CI, confidence interval.</p

Associations of the SNPs rs6214 and rs6898743 with gastrointestinal cancer.

<p>Only significant associations are visualized. Associations are given as follows: rs number of the SNP, genotype, odds ratio with corresponding 95% confidence interval. The homozygous most common genotype is taken as reference. EAC, esophageal adenocarcinoma; ESCC, esophageal squamous cell carcinoma.</p

Genotype distribution and ORs (95% CI) for the genotypes of SNPs rs6214 and rs6898743 in patients with EAC, ESCC, proximal CRC or distal CRC.

<p>EAC, esophageal adenocarcinoma; ESCC, esophageal squamous cell carcinoma; CRC, colorectal cancer.</p