Hereditary Cancer Syndromes > BMPR1A / SMAD4

Cancer Risks

Associated Syndromes

Associated Syndromes

Associated Syndromes

BMPR1A Summary Cancer Risk Table

CANCER  GENETIC CANCER RISK 
Colorectal High Risk
Gastric High Risk
Pancreatic Elevated Risk
Other Elevated Risk

BMPR1A gene Cancer Risk Table

CANCER TYPE AGE RANGE CANCER RISK RISK FOR GENERAL POPULATION 
Colorectal To age 42 20%-25% <0.2%
  To age 80 40%-50% 3.0%
Gastric To age 80 Up to 21% 0.6%
Pancreatic To age 80 Rare, but elevated risk 1%
Small Bowel To age 80 Rare, but elevated risk  0.2%

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 Summary Cancer Risk Table

CANCER  GENETIC CANCER RISK 
Colorectal High Risk
Gastric High Risk
Pancreatic Elevated Risk
Other High  Risk

SMAD4 Cancer Risk Table

CANCER TYPE AGE RANGE CANCER RISK RISK FOR GENERAL POPULATION 
Colorectal To age 42 20%-25% <0.2%
  To age 80 40%-50% 3.0%
Gastric To age 80 Up to 21% 0.6%
Pancreatic To age 80 Rare, but elevated risk 1%
Small Bowel To age 80 Rare, but elevated risk  0.2%
Other – Hereditary Hemorrhagic Telangiectasia All ages HHT is associated with a high risk for life threatening arteriovenous malformations of the lungs, brain and liver as well as nosebleeds. NA

SMAD4 Cancer Risk Management Table

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