Hereditary Cancer Syndromes >  BMPR1A / SMAD4

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CANCER

GENETIC CANCER RISK

Colorectal

High Risk

Gastric

High Risk

Pancreatic

Elevated Risk

Other

Elevated Risk

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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%

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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

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CANCER TYPE

PROCEDURE

AGE TO BEGIN

RISK FOR GENERAL POPULATION 

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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

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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

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CANCER

GENETIC CANCER RISK

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