Cancer Risks

Associated Syndromes

Associated Syndromes

Associated Syndromes

BMPR1A gene Cancer Risk Management Table

BMPR1A

CANCER TYPE PROCEDURE AGE TO BEGIN FREQUENCY
Colorectal Colonoscopy 12-15 years, or earlier if symptoms are present Every 2 to 3 years
  Monitor for rectal bleeding and/or anemia. 15 years, or earlier if symptoms are present Annually
  Colorectal surgical evaluation and counseling. Based on cancer diagnosis and/or polyp number, size and histology NA
Gastric Upper endoscopy 15 years Every 2 to 3 years
Pancreatic Currently there are no specific medical management guidelines for pancreatic cancer risk in mutation carriers. NA NA
Small Bowel Capsule endoscopy 15 years, or earlier if symptoms are present Individualized

SMAD4

CANCER TYPE PROCEDURE AGE TO BEGIN FREQUENCY
Colorectal Colonoscopy 12-15 years, or earlier if symptoms are present Every 2 to 3 years
  Monitor for rectal bleeding and/or anemia. 15 years, or earlier if symptoms are present Annually
  Colorectal surgical evaluation and counseling. Based on cancer diagnosis and/or polyp number, size and histology NA
Gastric Upper endoscopy 15 years Every 2 to 3 years
Pancreatic Currently there are no specific medical management guidelines for pancreatic cancer risk in mutation carriers. NA NA
Small Bowel Capsule endoscopy 15 years, or earlier if symptoms are present Individualized
Other – Hereditary Hemorrhagic Telangiectasia Multiple screenings recommended, which may include brain MRI, contrast echocardiogram, and chest CT. Some screenings are recommended within the first 6 months of life Varies

Unique Challenges and