Genetic heterogeneity in familial juvenile polyposis

Cancer Research

Volumn 60, Issue 24, 2000, Pages 6882-6885

  Huang, Sherry C ^a   Chen, Christine R ^b   Lavine, Joel E ^a   Taylor, Sharon F ^a   Newbury, Robert O ^c   Pham, Thu Thao T ^b   Ricciardiello, Luigi ^b   Carethers, John M ^b,d  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c RADY CHILDREN'S HOSPITAL   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATASE; PROTEIN P53;

ADOLESCENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BANNAYAN RILEY RUVALCABA SYNDROME; COWDEN SYNDROME; FAMILIAL POLYPOSIS; GASTROINTESTINAL POLYPOSIS; GENE MUTATION; GENETIC HETEROGENEITY; HAMARTOMA; HUMAN; JUVENILE POLYP; MONOZYGOTIC TWINS; PEDIGREE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADENOMATOUS POLYPOSIS COLI; BASE SEQUENCE; CHILD; CLONING, MOLECULAR; DISEASES IN TWINS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FAMILY HEALTH; FEMALE; GENE DELETION; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEINS;

EID: 0034671759     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Juvenile Polyposis
2. Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome
3. Juvenile polyposis - A precancerous condition
4. Colorectal neoplasia in juvenile polyposis or juvenile polyps
5. Bannayan-Riley-Ruvalcaba Syndrome
6. Cowden disease. Report of a family and review
7. Localization of the gene for Cowden disease to chromosome 10q22-23
8. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23
9. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease
10. PTEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase
11. The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3, 4, 5-triphosphate
12. Germline mutation of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
13. Germline mutations in PTEN are present in Bannayan-Zonana syndrome
14. A gene for familial juvenile polyposis maps to chromosome 18q21.1
15. Mutations in the SMAD4/DPC4 gene in juvenile polyposis
16. Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome
17. Del(10)(q22.3q24.1) associated with juvenile polyposis
18. PTEN germ-line mutations in juvenile polyposis coli
19. PTEN and inherited hamartoma-cancer syndromes
20. Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome
21. A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria
22. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
23. PTEN mutational spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
24. Malignant risk in juvenile polyposis coli: Increasing documentation in the pediatric age group
25. Familial juvenile polyposis coli: Increased risk of colorectal cancer