Explaining variation in familial adenomatous polyposis: Relationship between genotype and phenotype and evidence for modifier genes

Gut

Volumn 51, Issue 3, 2002, Pages 420-423

  Crabtree, M D ^a,b   Tomlinson, I P M ^a   Hodgson, S V ^c   Neale, K ^b   Phillips, R K S ^b   Houlston, R S ^d  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b ST MARK S HOSPITAL   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

ADENOMATOUS POLYP; ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA MODIFICATION; FAMILIAL POLYPOSIS; FEMALE; GENE ACTIVITY; GENE CLUSTER; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; INHERITANCE; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; COLONIC POLYPS; FEMALE; GENES, APC; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 0036719949     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.51.3.420     Document Type: Article

References (22)

1. Phenotypic expression in familial adenomatous polyposis: Partial prediction by mutation analysis
2. APC genotype, polyp number, and surgical options in familial adenomatous polyposis
3. Alleles of the APC gene: An attenuated form of familial polyposis
4. Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC
5. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein
6. Genotype-phenotype correlations in attenuated adenomatous polyposis coli
7. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
8. Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene
9. Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
10. The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia
11. A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36
12. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis
13. Absence of secretory phospholipase A2 gene alterations in human colorectal cancer
14. Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis
15. Variants at the secretory phospholipase A2 (PLA2G2A) locus: Analysis of associations with familialadenomatous polyposis and sporadic colorectal tumours
16. Variability in the severity of colonic polyposis in FAP results from differences in turnout initiation rather than progression and depends relatively little on patient age
17. Analysis of family resemblance. 3. Complex segregation of quantitative traits
18. Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes
19. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
20. Inheritance in erythropoietic protoporphyria: A common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
21. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC