ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Guideline
- [Genetic diagnostics].Pathologie (Heidelberg, Germany) · 2026Review
- 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
- RE: acute aortic dissection in a patient with hereditary hemorrhagic telangiectasia associated with juvenile polyposis due to SMAD4 mutation.Angiogenesis · 2025Article
- Review
- Hereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.Diagnostics (Basel, Switzerland) · 2025Review
- Clinical and Molecular Characterization ofInternational journal of molecular sciences · 2024Article
- Phenotypic characterisation ofJournal of medical genetics · 2024Observational
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Article
- Hereditary Hemorrhagic Telangiectasia Presenting with Asymptomatic Liver Lesions and a History of Early-onset Myocardial Infarction and Multiple Intracranial Aneurysms.Internal medicine (Tokyo, Japan) · 2023Article
- Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.Journal of the anus, rectum and colon · 2023Review
- A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant.Frontiers in oncology · 2023Article
- An Unexpected Anemia Hiding a Rare Syndrome With Overlapping Phenotypes.ACG case reports journal · 2022Article
- The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.International journal of molecular sciences · 2022Review
- Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.Familial cancer · 2022Article
- Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.Cancers · 2022Review
- Pharmacogenetic Review: Germline Genetic Variants Possessing Increased Cancer Risk With Clinically Actionable Therapeutic Relationships.Frontiers in genetics · 2022Review
- Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions.Cancer management and research · 2022Review
- Hereditary pancreatic cancer.International journal of clinical oncology · 2021Review
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. Twenty-one percent of the patients (7/34) had features suggesting a connective tissue defect: enlarged aortic root (n = 3), aortic and mitral insufficiency (n = 2), aortic dissection (n = 1), retinal detachment (n = 1), brain aneurysms (n = 1), and lax skin and joints (n = 1). Juvenile polyposis-specific findings were almost uniformly present but variable. Ninety-seven percent of the patients had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent of the patients (15/31) had extensive gastric polyposis. Hereditary hemorrhagic telangiectasia features, including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (6/16, 38%), brain arteriovenous malformation (1/26, 4%), pulmonary arteriovenous malformation (9/17, 53%), and intrapulmonary shunting (14/23, 61%), were documented in 76% of the patients. SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable. Connective tissue abnormalities are an emerging component of juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, and larger studies are needed to understand these manifestations.
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Registered trials
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