Transforming growth factor β superfamily signaling in development of colorectal cancer

B Jung, JJ Staudacher, D Beauchamp - Gastroenterology, 2017 - Elsevier
Transforming growth factor (TGF)-β cytokines signal via a complex network of pathways to
regulate proliferation, differentiation, adhesion, migration, and other functions in many cell …

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?

F Rebuzzi, P Ulivi, G Tedaldi - International Journal of Molecular Sciences, 2023 - mdpi.com
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of
the key risk factors in the development of this malignancy. Lynch syndrome and familial …

Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on …

CR Boland, GE Idos, C Durno, FM Giardiello… - Gastroenterology, 2022 - Elsevier
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant
disorders associated with an increased risk of benign and malignant intestinal and …

Hereditary colorectal cancer

H Hampel, MF Kalady, R Pearlman… - Hematology …, 2022 - hemonc.theclinics.com
Around 10% to 16% 1–4 of all individuals with colorectal cancer have a pathogenic variant
in a cancer susceptibility gene (Table 1). While not all of these genes have been associated …

Management of juvenile polyposis syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group

S Cohen, W Hyer, E Mas, M Auth… - Journal of pediatric …, 2019 - journals.lww.com
Abstract The European Society for Paediatric Gastroenterology, Hepatology and Nutrition
(ESPGHAN) Polyposis Working Group developed recommendations to assist clinicians and …

SMAD4 promotes TGF-β–independent NK cell homeostasis and maturation and antitumor immunity

Y Wang, J Chu, P Yi, W Dong, J Saultz… - The Journal of …, 2019 - Am Soc Clin Investig
SMAD4 is the only common SMAD in TGF-β signaling that usually impedes immune cell
activation in the tumor microenvironment. However, we demonstrated here that selective …

Occurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis

AD Singh, A Gupta, N Mehta, B Heald… - Gastrointestinal …, 2023 - Elsevier
Background and Aims The true rate of gastric cancer (GC) in juvenile polyposis syndrome
(JPS) is unknown because of its rarity and ascertainment bias in published literature. To …

Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: an update from the AACR Childhood Cancer Predisposition Working Group

SP MacFarland, K Becktell, KW Schneider… - Clinical Cancer …, 2024 - aacrjournals.org
Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an
underlying hereditary cancer risk syndrome requiring ongoing cancer screening …

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant

SP MacFarland, JE Ebrahimzadeh, K Zelley… - Cancer Prevention …, 2021 - AACR
Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous polyposis
syndrome that increases the risk of gastrointestinal cancer. Approximately 40%–50% of JPS …

Clinical spectrum and science behind the hamartomatous polyposis syndromes

L Yehia, B Heald, C Eng - Gastroenterology, 2023 - Elsevier
The hamartomatous polyposis syndromes are a set of clinically distinct disorders
characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract. These …