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hereditary disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary disease

MONDO:0003847

Also known as:genetic conditiongenetic diseasehereditary disease or disorder

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Overview

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.

OnsetCONGENITAL, ANTENATAL, ADULT, INFANTILE, CHILDHOOD, JUVENILE, NEONATAL, LATE, MIDDLE_AGE

Clinical Trials119 registered · 37 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth, before birth, adulthood, infancy, childhood, adolescence, newborn period, later in life, middle age.

GeneReviews

Clinical Guidance

Li-Fraumeni syndrome (LFS) is associated with a high risk for a broad spectrum of cancers. The five core LFS-related cancers are adrenocortical carcinomas (ACC), breast cancer, central nervous system (CNS) tumors, osteosarcomas, and soft-tissue sarcomas . The risk of any type of cancer by age 50 years in an international study of 4,028 individuals with LFS was 92.4% in women and 59.7% in men . In one study, the most frequent first cancer was breast cancer for women and CNS and soft-tissue sarcoma for men . The most frequent cancers by age group include the following :

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

Consensus clinical diagnostic criteria for Li-Fraumeni syndrome (LFS) have been published .

Suggestive Findings

LFS should be suspected in probands who meet modified Chompret criteria or have any additional suggestive findings. Modified Chompret criteria

Source: GeneReviews — "Li-Fraumeni Syndrome"

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 hereditary disease. The disease remains an area of unmet medical need.

Gene therapy approaches for hereditary disease have been reported in the published literature.

GeneReviews

Management Guidelines

Clinical practice guidelines for Li-Fraumeni syndrome (LFS) have been published .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with LFS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

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

GeneReviews

Surveillance Guidelines

Surveillance guidelines for adults and children with LFS have been developed and modified from the Toronto protocol . Other published guidelines (e.g., American Association for Cancer Research and National Institute for Health and Care Excellence guidelines) may differ slightly from the recommendations in due to the lack of definitive data on the efficacy of these strategies. Table 4. Li-Fraumeni Syndrome: Recommended Surveillance

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.

119 clinical trials registered, 37 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and gene therapy. Pipeline includes 11 PHASE3, 3 PHASE2, 6 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03612310](https://clinicaltrials.gov/study/NCT03612310)

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 2:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 119 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Differential Diagnosis

Table 2. Other Genes of Interest in the Differential Diagnosis of Li-Fraumeni Syndrome

Gene(s)	Disorder	MOI	Core Cancer(s)	Typical Age at Cancer Onset	Comments
BRCA1- BRCA2-assoc hereditary breast ovarian cancer	AD	Breast, ovary, pancreas, prostate, melanoma	Adulthood	Pathogenic variants in BRCA1 BRCA2 are more likely to be identified in persons w/personal family histories that include ER/PR/HER2-negative breast cancers, male breast cancer, ovarian cancer, advanced prostate cancer, Ashkenazi Jewish ancestry, do not include childhood cancers. CHEK2	—
CHEK2-related cancer susceptibility	AD	Breast, colorectal, prostate	Adulthood	Pathogenic variants in CHEK2 are more likely to be identified in persons w/personal family histories of predominantly breast, colon, prostate cancers.	—
PMS2	Constitutional mismatch repair deficiency (CMMRD; a variant of Lynch syndrome)	AR	Colorectal, small bowel, hematologic, brain	Childhood	CMMRD should be considered in persons w/childhood-onset GI cancer or polyps, malignant brain tumor, hematologic cancer, /or caf au lait macules. POT1
POT1 tumor predisposition	AD	Melanoma, CLL, glioma, angiosarcoma (esp cardiac angiosarcoma)	Adulthood	POT1 tumor predisposition should be considered in persons w/personal or family history of melanoma, CLL, glioma, /or angiosarcoma.	—

Source: GeneReviews — "Li-Fraumeni Syndrome"

Research Type	Count	% of Total
Patient case studies	91	28%
Research summaries	62	19%
Laboratory research	57	18%
Disease patterns and progression	50	15%
Testing and diagnosis research	23	7%
New treatment approaches	23	7%
Other research	12	4%
Clinical study results	7	2%

Kisho

hereditary disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

All cancers

Breast cancer

CNS tumors

GI cancers

Melanoma

Sarcomas

Genetic counseling

Clinical Guidance

Clinical Trials

Recent Publications

hereditary disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

All cancers

Breast cancer

CNS tumors

GI cancers

Melanoma

Sarcomas

Genetic counseling

Clinical Guidance

Clinical Trials

Recent Publications