Germline mutations in BMPR1A/ALK3 cause a subset of cases of Juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

American Journal of Human Genetics

Volumn 69, Issue 4, 2001, Pages 704-711

  Zhou, Xiao Ping ^a   Woodford Richens, Kelly ^b   Lehtonen, Rainer ^c   Kurose, Keisuke ^a   Aldred, Micheala ^a   Hampel, Heather ^a   Launonen, Virpi ^c   Virta, Sanno ^c   Pilarski, Robert ^a   Salovaara, Reijo ^c,d   Bodmer, Walter F ^e   Conrad, Beth A ^f   Dunlop, Malcolm ^g   Hodgson, Shirley V ^h   Iwama, Takeo ⁱ   Järvinen, Heikki ^j   Kellokumpu, Ilmo ^j   Kim, J C ^k   Leggett, Barbara ^l   Markie, David ^m   Mecklin, Jukka Pekka ⁿ   Neale, Kay ^o   Phillips, Robin ^o   Piris, Juan ^p   Rozen, Paul ^q   Houlston, Richard S ^r   Aaltonen, Lauri A ^c   Tomlinson, Ian P M ^b   Eng, Charis ^a   more..

^a OHIO STATE UNIVERSITY   (United States)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f United Hospitals   (United States)

^g WESTERN GENERAL HOSPITAL   (United Kingdom)

^h ST THOMAS HOSPITAL   (United Kingdom)

ⁱ Centre for Polyposis and Intestinal Diseases   (United States)

^j JYVÄSKYLÄ CENTRAL HOSPITAL   (Finland)

^k University of Ulsan College of Medicine   (South Korea)

^l ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^m UNIVERSITY OF OTAGO   (New Zealand)

ⁿ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^o ST MARK S HOSPITAL   (United Kingdom)

^p JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^q TEL AVIV UNIVERSITY   (Israel)

^r INSTITUTE OF CANCER RESEARCH   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN ALK3; PROTEIN BMPR1A; PROTEIN MADH4; SMAD PROTEIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ARTICLE; BANNAYAN RILEY RUVALCABA SYNDROME; CANCER RISK; COLON CANCER; CONGENITAL TUMOR; COWDEN SYNDROME; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERM CELL; HETEROZYGOSITY LOSS; HUMAN; JUVENILE POLYP; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY;

EID: 0034829630     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323703     Document Type: Article

References (35)

1. Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome
2. Increased risk for cancer in patients with the Peutz-Jeghers syndrome
3. Absence of germline mutations in MINPP1, a phosphatase-encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations
4. Will the real Cowden syndrome please stand up: Revised diagnostic criteria
5. To be or not to BMP
6. Genetic testing for cancer predisposition
7. Molecular classification of the inherited hamartoma polyposis syndromes: Clearing the muddied waters
8. Cowden syndrome
9. Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients
10. Bannayan-Riley-Ruvalcaba syndrome
11. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
12. Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases
13. Germline mutations of BMPR1A in juvenile polyposis
14. Mutations in the SMAD4/DPC4 gene in juvenile polyposis
15. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase
16. Landscaping the cancer terrain
17. Crystal structure of the BMP-2-BR1A ectodomain complex
18. Variant manifestation of Cowden disease in Japan: Hamartomatous polyposis of the digestive tract with mutation of the PTEN gene
19. Germline PTEN mutations in Cowden syndrome-like families
20. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
21. Allelic imbalance, including deletion of PTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation
22. Germline mutations in PTEN are present in Bannayan-Zonana syndrome
23. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
24. Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome (JPS)
25. How cells read TGF-β signals
26. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
27. Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers
28. Localization of the gene for Cowden disease to 10q22-23
29. PTEN germ-line mutations in juvenile polyposis coli
30. SMAD genes in juvenile polyposis
31. Deletion 10q23.2-10q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome
32. Germ-line PTEN/MMAC1/TEP1 mutations and association with gastrointestinal manifestations in Cowden disease
33. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
34. Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: Evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers
35. Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium