Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1

Citation Types

5
69
1
2

Year Published

2005
2005
2015
2015

Publication Types

Select...
6
1

Relationship

1
6

Authors

Journals

citations
Cited by 102 publications
(77 citation statements)
references
References 18 publications
5
69
1
2
Order By: Relevance
“…A recent study also suggested MYH screening for patients with early-onset CRC (Wang, et al, 2004). Since the two mutational hotspots p.Y165C and p.G382D have accounted for almost all MYH cases in Caucasians, it has been recommended that mutation screening of European patients should start from the MYH exons 7 and 13 (Venesio, et al, 2004). Based on the results of this and other recent studies (Gismondi, et al, 2004;, we suggest that screening of the MYH exon 14 should be added to initial mutation testing.…”
Section: Discussionmentioning
confidence: 69%
“…A recent study also suggested MYH screening for patients with early-onset CRC (Wang, et al, 2004). Since the two mutational hotspots p.Y165C and p.G382D have accounted for almost all MYH cases in Caucasians, it has been recommended that mutation screening of European patients should start from the MYH exons 7 and 13 (Venesio, et al, 2004). Based on the results of this and other recent studies (Gismondi, et al, 2004;, we suggest that screening of the MYH exon 14 should be added to initial mutation testing.…”
Section: Discussionmentioning
confidence: 69%
“…However, ethnic and geographic differences in the mutation spectrum have been observed. 14,17,20,25 We cannot rule out that we missed some mutations not detectable by routine procedures, in particular large genomic deletions. However, because of the low incidence of monoallelic MUTYH mutations in our polyposis patients, it is not very likely that these variants contribute substantially to the mutation spectrum and incidence of MUTYH.…”
Section: Spectrum Of Biallelic Mutyh Mutationsmentioning
confidence: 95%
“…12,16,18,20,21,24 We identified biallelic MUTYH mutations in 55 (17%) of 329 unrelated and unselected APC mutation-negative polyposis patients.…”
Section: Spectrum Of Biallelic Mutyh Mutationsmentioning
confidence: 99%
See 1 more Smart Citation
“…MAP has been described as an autosomal recessive form of FAP associated with susceptibility to CRC. 95,97 MAP is characterized by multiple colorectal adenomas and a high risk of CRC. The polyp burden of individuals affected with MAP is variable, and although the data are limited, current evidence suggests that biallelic mutations can be found in up to 30% of patients with 15-100 adenomas and in ~7% of patients with >100 adenomas.…”
Section: Brief Clinical Descriptionmentioning
confidence: 99%