Table 5.

MUTYH Germline Mutations Among Polyposis Patients who are Negative for APC Germline Mutations

	Sieber et al. 2003 [40]	Sampson et al. 2003 [62]	Isidro et al. 2004 [69]	Wang et al. 2004 [57]	Nielsen et al. 2005 [87]	Russell et al. 2006 [75]	Slová et al. 2007 [76]	Kim et al. 2007 [61]
Population group	UK	UK	Portugal	USA	The Netherlands	Switzerland	Czech Republic	Korea
Number of non-related tested Polyposis patients*1	N=259 (3 to >100)	N =111 (At least 10)	N =53 (10 to >1000)	N=140 (4 to >500)	N=170	N=61 (5-99)	N= 82 (3 to >100)	N=62 (10 to >100)
Method of screening of the MUTYH gene	All Exons and Exon-intron boundries	Caucasians:Exon 7 +13*2, Heterozygote/Non-Caucasians: All exons	All Exons	Exon 7 + 13	All Exons	Exon 7 + 13, if hetero-zygote: all exons	All Exons and Exon-intron boundries	All exons
Carriers of monoallelic MUTYH germline mutations	4%	3%	0%	3%	24%	10%	1%	5%
Carriers of biallelic MUTYHgermline mutations	5%	23%	40%	11%	24%	10%	2%	3%

In this table only studies in which the numbers of tested individuals are > 50 are included. The tested individuals are all APC germline mutation negative. The individuals tested are either probands or call-up patients with colorectal adenomas.

^*1The groups of tested Polyposis patients included both patients with < and > 100 colorectal adenomas. The reported number of adenomas in the groups in question are given in brackets.

^*2The common mutations Y179C and G396D are found in exon 7 and 13, respectively.