ArticleThe Journal of molecular diagnostics : JMD2006
Mutation screening in juvenile polyposis syndrome.
Article in The Journal of molecular diagnostics : JMD, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 43 citations in OpenAlex.
- Familial Juvenile Polyposis Syndrome: A Case Report of a Cosegregation of SMAD4 Germline Pathogenic Variant c.403C>T and Review of the Literature.Case reports in surgery · 2026Article
- Clinical and Molecular Characterization ofInternational journal of molecular sciences · 2024Article
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Discovery of Highly Potent and BMPR2-Selective Kinase Inhibitors Using DNA-Encoded Chemical Library Screening.Journal of medicinal chemistry · 2023Article
- A NewDiagnostics (Basel, Switzerland) · 2022Article
- SMAD4 mutations identified in Iranian patients with colorectal cancer and polyp.Gastroenterology and hepatology from bed to bench · 2021Article
- Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.BMC medical genetics · 2020Article
- Bone Morphogenetic Protein-2 in Development and Bone Homeostasis.Journal of developmental biology · 2020Review
- Personalized Medicine-Current and Emerging Predictive and Prognostic Biomarkers in Colorectal Cancer.Cancers · 2020Review
- Article
- Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.American journal of medical genetics. Part A · 2013Article
- Identification of patients at risk for hereditary colorectal cancer.Clinics in colon and rectal surgery · 2012Article
- Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR).Breast cancer research : BCR · 2011Article
- Lower gastrointestinal tract cancer predisposition syndromes.Hematology/oncology clinics of North America · 2010Review
- Genetic variations in the SMAD4 gene and gastric cancer susceptibility.World journal of gastroenterology · 2010Article
- Hamartomatous polyposis syndromes.The Surgical clinics of North America · 2008Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Juvenile polyposis syndrome (JPS) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of tumors in these tissues. The diagnosis of JPS is often difficult because of the phenotypic overlap with other hamartomatous polyposis syndromes. Germline mutations have been identified in MADH4 and BMPR1A, aiding in presymptomatic genetic testing. In this study, we describe the results from 3 years of molecular diagnostic screening in JPS. Seventy unrelated individuals referred to our lab for JPS testing were examined through the sequence analysis of coding regions and exon-intron boundaries in both genes. Germline mutations were identified in 30% of cases, with 11.4% in BMPR1A and 18.6% in MADH4. All mutation-positive individuals were negative for cancer at testing, and a single pulmonary valve stenosis was the only congenital anomaly reported. A majority of mutations identified were novel including the first splice site alteration in MADH4. Based on the limited number of exons in each gene, low polymorphism frequency, and high frequency of frameshift or nonsense mutations identified, direct sequence analysis is a suitable methodology for mutation screening if all coding regions and exon-intron boundaries are examined in both genes.
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