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familial adenomatous polyposis 3 (FAP3) - Clinical Profile, Genes & Research | Kisho | Kisho

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for NTHL1 tumor syndrome have not been established.

Suggestive Findings

NTHL1 tumor syndrome should be suspected in an individual with the following clinical findings, family history, and/or molecular genetic findings on tumor tissue.

Clinical findings

Source: GeneReviews — "NTHL1 Tumor Syndrome"

GeneReviews

Differential Diagnosis

Genes of interest in the differential diagnosis of NTHL1 tumor syndrome are listed in . Table 2. Genes of Interest in the Differential Diagnosis of NTHL1 Tumor Syndrome

Gene(s)1	MOI	Disorder	Clinical Features of Disorder
MBD4	AR	Tumor predisposition syndrome 2 (OMIM 619975)	CRC risk; 10-100 adenomas
MSH3	AR	Familial adenomatous polyposis 4 (OMIM 617100)

Genetic testing for NTHL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial adenomatous polyposis 3 has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial adenomatous polyposis 3. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for NTHL1 tumor syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with NTHL1 tumor syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. NTHL1 Tumor Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Colon polyps/ CRC	Colonoscopy	Beginning at age 18-20 yrs
Breast cancer	Breast MRI1	Beginning at age 30 yrs Mammography
Endometrial cancer	Transvaginal ultrasound exam endometrial biopsy2	Beginning at age 40 yrs
Duodenal polyps/ cancer	Upper endoscopy	Beginning at age 25 yrs
Meningioma	Brain MRI	At time of diagnosis
Genetic counseling

Source: GeneReviews — "NTHL1 Tumor Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "NTHL1 Tumor Syndrome"

Clinical Trials

View trials for familial adenomatous polyposis 3

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. NTHL1 Tumor Syndrome: Recommended Surveillance

Concern	Evaluation	Frequency
Colon polyps/ cancer	Colonoscopy	Every 2 yrs starting at age 18-20 yrs
Breast cancer	Breast MRI1	In females: annually between ages 30 60 yrs Mammography
Endometrial cancer	Transvaginal ultrasound endometrial biopsy3	In females: every 2 yrs between ages 40 60 yrs
Duodenal polyps/ cancer	Esophagogastroduodenoscopy	At least every 5 yrs starting at age 25 yrs
Meningioma	Brain MRI	In those w/concerning clinical sign/symptoms 1. Breast MRI sensitivity is greater than that of mammography for detecting breast cancer. 2. Frequency per Spigelman criteria 3. Individuals heterozygous for a germline NTHL1 pathogenic variant.

Source: GeneReviews — "NTHL1 Tumor Syndrome"

Phenotype severity distribution: 1 always present feature, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial adenomatous polyposis 3.

286 publications have been identified in PubMed for familial adenomatous polyposis 3. Research spans Basic Science / Preclinical (36%), Clinical Trial Publication (14%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Laboratory research	103	36%
Clinical study results	40	14%
Disease patterns and progression	37	13%
Patient case studies	34	12%
Research summaries	30	10%
Testing and diagnosis research	29	10%
New treatment approaches	13	5%

Recent Publications

Broderick JC (2026). [PMID: 42048421](https://pubmed.ncbi.nlm.nih.gov/42048421/). *Clin Cancer Res*. [Clinical Trial Publication]
Zhao W (2026). [PMID: 41887221](https://pubmed.ncbi.nlm.nih.gov/41887221/). *Cell Rep Med*. [Basic Science / Preclinical]
Cramer Z (2026). [PMID: 41790555](https://pubmed.ncbi.nlm.nih.gov/41790555/). *Cell Rep*. [Basic Science / Preclinical]
Sommer AK (2026). [PMID: 41524686](https://pubmed.ncbi.nlm.nih.gov/41524686/). *Gastroenterology*. [Clinical Trial Publication]
Zhou Y (2026). [PMID: 41064934](https://pubmed.ncbi.nlm.nih.gov/41064934/). *Histopathology*. [Basic Science / Preclinical]
Siegmund SE (2026). [PMID: 42151003](https://pubmed.ncbi.nlm.nih.gov/42151003/). *Semin Diagn Pathol*. [Review / Meta-Analysis]
Swain WR (2026). [PMID: 42066739](https://pubmed.ncbi.nlm.nih.gov/42066739/). *Cancer Epidemiol*. [Epidemiology / Natural History]
Shiraishi T (2026). [PMID: 42125437](https://pubmed.ncbi.nlm.nih.gov/42125437/). *J Anus Rectum Colon*. [Basic Science / Preclinical]
Sun Y (2026). [PMID: 41966776](https://pubmed.ncbi.nlm.nih.gov/41966776/). *Int Immunopharmacol*. [Basic Science / Preclinical]
Kogami T (2026). [PMID: 41525292](https://pubmed.ncbi.nlm.nih.gov/41525292/). *Pathol Int*. [Diagnostic / Biomarker]

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familial adenomatous polyposis 3

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

familial adenomatous polyposis 3

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications