Table 3.
Lifestyle habits, phenotypes and Sanger sequencing results of screened family members
| Subject | Nab1 | Nab2 | Twins | Nab5 | Global MAF | Local MAF | Localization | ClinVar | eQTL p-value for colon tissu | |
|---|---|---|---|---|---|---|---|---|---|---|
| Nab3 | Nab4 | |||||||||
| Age of onset | 47 | − | 33 | 35 | − | |||||
| Lifestyle habits (smoking and drinking) | Neither smoking nor alcohol intake | Neither smoking nor alcohol intake | +++ (consumption and exposure to smoking) +++ alcohol intake | ++ smoking | +++ smoking +++ alcohol intake | |||||
| Phenotype | CRC | Unaffected | CRC | Crohn | Unaffected | |||||
| Sanger sequencing: MSH2 (rs63750780) | M | M | M | M | M | NA | 0 | Exonic | Pathogenic | NA |
MAF minor allele frequency, Global MAF data from the 1000 genomes project, Local MAF from data available in our research laboratory of 59 whole exome sequencing of Tunisian subjects without CRC, eQTLs expression quantitative trait loci, M mutated (heterozygote), NA not available. Lifestyle habits of the investigated family members, including smoking and alcohol intake are summarized. ClinVar clinical significance of the variation