Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

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
Subject	Nab1	Nab2	Nab3	Nab4	Nab5	Global MAF	Local MAF	Localization	ClinVar	eQTL p-value for colon tissu
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

ISSN: 1479-5876