NDLI: The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome

Content Provider	Springer Nature Link
Author	Stuckless, Susan Parfrey, Patrick S. Woods, Michael O. Cox, Janet Fitzgerald, G. William Green, Jane S. Green, Roger C.
Copyright Year	2006
Abstract	To compare the phenotypic expression of three different MSH2 mutations causing Lynch syndrome, 290 family members at 50% risk of inheriting a mutation were studied. Two truncating mutations of the MSH2 gene have been identified in Newfoundland: an exon 8 deletion in five families (N=74 carriers) and an exon 4–16 deletion in one family (N=65 carriers). The third mutation was an intron 5 splice site mutation resulting in deletion of exon 5 in RNA and occurred in 12 families (N=151 carriers). Age to onset of first cancer, first colorectal cancer (CRC), first extracolonic cancers and death were compared. By age 60, 89% of family members with the intron 5 mutation, 81% with the exon 8 deletion, and 85% with the exon 4–16 deletion had developed cancer. For all three mutations males had a higher age-related risk of CRC and death compared to females. In the intron 5 splice site mutation carriers, the number of transitional cell cancers of the urinary tract was significantly lower and time to first ovarian cancer was significantly higher than in the carriers of the genomic deletions. The incidence of CRC in MSH2 mutation carriers, exposed to the same environment, is not modified by the specific mutation, although there is a suggestion that type of mutation may influence development of some extracolonic cancers.
Starting Page	1
Ending Page	12
Page Count	12
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	6
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2006-10-13
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Epidemiology Human Genetics Oncology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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