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Juvenile polyposis syndrome is an inherited condition, often caused by a fault in SMAD4 or BMPR1A, that causes many non-cancerous polyps in the stomach and bowel and raises the risk of bowel and stomach cancer. Regular endoscopy from the teenage years removes the polyps before they bleed or turn into cancer.
Clinical criteria: at least five juvenile polyps in the colon, juvenile polyps in both the upper and lower gut, or any number with a family history; a germline variant in SMAD4 or BMPR1A is found in many. Colorectal cancer incidence is estimated at 10 to 50% and gastric cancer up to 20%, varying with the gene (AACR 2024); SMAD4 carriers have more gastric polyps and hereditary haemorrhagic telangiectasia.
BSG 2020: colonoscopy from 15 (earlier with symptoms) every one to three years by phenotype; upper endoscopy from 18 for SMAD4 carriers and from 25 for BMPR1A carriers and those without a variant; SMAD4 carriers should be assessed for hereditary haemorrhagic telangiectasia; colectomy where polyps cannot be controlled endoscopically. The AACR 2024 update recommends genetic testing before 15 in familial disease and colonoscopy from 12 to 15 and upper endoscopy from 15 in children without symptoms.
In plain words · SMAD4 (SMAD family member 4) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Oesophageal cancer and 5 more.
Showing the target this term concerns: SMAD4.
Shares Colectomy, Invitae Common Hereditary Cancers Panel, Colonoscopy, Endoscopy (EGD, EUS, ERCP) and the tag hereditary.
Shares Invitae Common Hereditary Cancers Panel, Endoscopy (EGD, EUS, ERCP), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Color Hereditary Cancer Test, Invitae Common Hereditary Cancers Panel, Colonoscopy, Endoscopy (EGD, EUS, ERCP) and the tag hereditary.
Shares Invitae Common Hereditary Cancers Panel, Endoscopy (EGD, EUS, ERCP), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Color Hereditary Cancer Test, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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