ArticleCancer prevention research (Philadelphia, Pa.)2021
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing
Open access · bronzeAbstract readComparative Study
In one paragraph
Article in Cancer prevention research (Philadelphia, Pa.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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0cells of the map it votes in
18citing papers in PubMed
3.3field-weighted citation impact, top 7% of its field
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Who cites it
18 citing papers in PubMed, 43 citations in OpenAlex.
- The 'other' colonic polyposis syndromes-evolving insights and guidance for endoscopists.International journal of colorectal disease · 2026Review
- Review
- Mapping Genetic Modifiers of Polyp Formation inCells · 2026Article
- 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
- Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.Heliyon · 2024Review
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Studying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross andInternational journal of molecular sciences · 2024Article
- Juvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.Surgical case reports · 2024Article
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.Familial cancer · 2023Article
- The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.Current issues in molecular biology · 2023Article
- Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Review
- Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?International journal of molecular sciences · 2023Review
- A NewDiagnostics (Basel, Switzerland) · 2022Article
- Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions.Cancer management and research · 2022Review
- Juvenile polyposis without a germline variant inOncotarget · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 10 institutions in 1 country.
Suzanne P MacFarlandChildren's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. Macfarlands@email.chop.edu bryson.katona@pennmedicine.upenn.edu.ORCID 0000-0001-5894-6403
Jessica E EbrahimzadehHospital of the University of Pennsylvania and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Kristin ZelleyChildren's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.ORCID 0000-0003-0970-1850
Lubna BegumChildren's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Lee M BassAnn & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Randall E BrandDivision of Gastroenterology, Hepatology, and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania.ORCID 0000-0002-4136-3313
Beth DudleyDivision of Gastroenterology, Hepatology, and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania.ORCID 0000-0002-8464-6014
Douglas S FishmanTexas Children's Hospital and Baylor College of Medicine, Houston, Texas.
Amanda GanzakDepartment of Medicine and Cancer Center, Yale New Haven Hospital, Yale University, New Haven, Connecticut.
Eve KarloskiDivision of Gastroenterology, Hepatology, and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania.ORCID 0000-0002-2916-0425
Alicia LathamMemorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, New York.ORCID 0000-0002-9758-713X
Xavier LlorDepartment of Medicine and Cancer Center, Yale New Haven Hospital, Yale University, New Haven, Connecticut.ORCID 0000-0002-6259-185X
Sharon PlonTexas Children's Hospital and Baylor College of Medicine, Houston, Texas.
Mary K RiordanAnn & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Sarah R ScollonTexas Children's Hospital and Baylor College of Medicine, Houston, Texas.ORCID 0000-0003-2017-0245
Zsofia K StadlerMemorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, New York.
Sapna SyngalDana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts.ORCID 0000-0001-5487-7471
Chinedu UkaegbuDana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts.
Jennifer M WeissUniversity of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.ORCID 0000-0002-4927-2133
Matthew B YurgelunDana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts.ORCID 0000-0002-6184-9273
Garrett M BrodeurChildren's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.ORCID 0000-0002-6721-122X
Petar MamulaChildren's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Bryson W KatonaHospital of the University of Pennsylvania and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. Macfarlands@email.chop.edu bryson.katona@pennmedicine.upenn.edu.ORCID 0000-0001-8186-9119
Children's Hospital of Philadelphia · USTexas Children's Hospital · USUniversity of Pittsburgh · USBrigham and Women's Hospital · USHospital of the University of Pennsylvania · USMemorial Sloan Kettering Cancer Center · USNorthwestern University · USYale New Haven Hospital · USDana-Farber Cancer Institute · USWisconsin Division of Public Health · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MMenin/MLL promotes cell survival in the setting of EGFR inhibitionK08DK106489 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATONA, BRYSON WILLIAM · 2015 to 2019
$819kMenin regulates colonic epithelial cell growth through LXR repressionR03DK120946 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATONA, BRYSON WILLIAM · 2019 to 2020
$243kNCI NIH HHS P30 CA008748NIDDK NIH HHS K08 DK106489NIDDK NIH HHS R03 DK120946
Abstract
Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous polyposis syndrome that increases the risk of gastrointestinal cancer. Approximately 40%-50% of JPS is caused by a germline disease-causing variant (DCV) in the
Indexed as
AdolescentAdultAgedAge FactorsBone Morphogenetic Protein Receptors, Type IChildChild, PreschoolColectomyColonoscopyFemaleFollow-Up StudiesGerm-Line MutationHumansIntestinal PolyposisMaleMedical History TakingBMPR1A protein, humanBone Morphogenetic Protein Receptors, Type ISmad4 ProteinSMAD4 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.