Hereditary Cancer Syndromes > BMPR1A / SMAD4
CANCER
GENETIC CANCER RISK
Colorectal
High Risk
Gastric
High Risk
Pancreatic
Elevated Risk
Other
Elevated Risk
CANCER TYPE
PROCEDURE
AGE TO BEGIN
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%
CANCER TYPE
PROCEDURE
AGE TO BEGIN
RISK FOR GENERAL POPULATION
Colorectal
Colonoscopy
12 to 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
CANCER TYPE
PROCEDURE
AGE TO BEGIN
RISK FOR GENERAL POPULATION
CANCER
GENETIC CANCER RISK
Colorectal
High Risk
Gastric
High Risk
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Pancreatic
Elevated Risk
Other
High Risk
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
CANCER TYPE
PROCEDURE
AGE TO BEGIN
FREQUENCY
Colorectal
Colonoscopy
12 to 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
CANCER
GENETIC CANCER RISK
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