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Living with Familial adenomatous polyposis 3

An inherited condition with polyps in the digestive tract and a higher chance of colorectal and other cancers.

Understanding Familial adenomatous polyposis 3

Familial adenomatous polyposis 3 (NTHL1-related attenuated FAP) is a genetic condition with a higher risk of colorectal and breast cancer.

It also raises the chance of multiple polyps in the digestive tract. Other cancers reported include endometrial, cervical, and bladder cancer, and also brain, skin (basal cell), and blood cancers. Cancers most often occur in middle age or later.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Several polyps in the colon
  • Colon or rectal cancer
  • Breast cancer
  • Womb lining (endometrial) cancer
  • Bladder tumors
  • Meningioma (a brain-covering tumor)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include cancer specialists, digestive system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in NTHL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    FORCE: Facing Our Risk of Cancer Empowered may keep lists of experts for this condition.

Care & treatment

Care team
Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
Expert care
Expert lists: FORCE: Facing Our Risk of Cancer Empowered
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with FORCE: Facing Our Risk of Cancer Empowered
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which cancer screenings should I have, and how often?
Should my brothers, sisters, or children have genetic testing?
Which specialists should be involved in my care?

Quick facts

Symptoms usually startAdult and as an Older Adult
InheritanceAutosomal Recessive
GenesNTHL1

Changes in the NTHL1 gene cause this condition. It is autosomal recessive, which means two changed copies of the gene are needed, one from each parent.

GeneticGastrointestinal

Also known as: familial adenomatous polyposis type 3; fap3; nthl1-related adenomatous polyposis and colorectal cancer; nthl1-related afap; nthl1-related attenuated familial adenomatous polyposis; nthl1-related attenuated fap

Patient organizations

Source: NIH GARD · Familial adenomatous polyposis 3GARD ID 17790 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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