hereditary nonpolyposis colorectal cancer (HNPCC)
GPTKB entity
Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Oncology
|
| gptkbp:associated_with |
ovarian cancer
endometrial cancer increased risk of colorectal cancer |
| gptkbp:caused_by |
mutations in mismatch repair genes
|
| gptkbp:clinical_trial |
ongoing studies
phase II trials phase III trials |
| gptkbp:death |
approximately 30-50% for metastatic disease
approximately 70-90% for localized disease |
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:first_described_by |
gptkb:1993
|
| gptkbp:genetic_studies |
MLH1 gene
MSH2 gene MSH6 gene PMS2 gene |
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary nonpolyposis colorectal cancer (HNPCC)
|
| gptkbp:inherits_from |
gptkb:parents
|
| gptkbp:is_involved_in |
Colon Cancer Alliance
Facing Our Risk of Cancer Empowered (FORCE) Lynch Syndrome International |
| gptkbp:known_as |
gptkb:Lynch_syndrome
|
| gptkbp:number_of_players |
accounts for 3-5% of all colorectal cancers
higher incidence in certain populations increased surveillance recommended for at-risk individuals often diagnosed at a younger age than sporadic cases |
| gptkbp:prevalence |
1 in 300 to 1 in 400 individuals
|
| gptkbp:provides_guidance_on |
gptkb:European_Society_for_Medical_Oncology
gptkb:American_Society_of_Clinical_Oncology gptkb:National_Comprehensive_Cancer_Network |
| gptkbp:public_awareness |
Genetic Testing Awareness Month
Lynch Syndrome Awareness Day |
| gptkbp:research_focus |
targeted therapies
early detection molecular mechanisms preventive strategies |
| gptkbp:risk_factor |
age
family history gender |
| gptkbp:screenings |
colonoscopy
endometrial biopsy |
| gptkbp:symptoms |
abdominal pain
changes in bowel habits rectal bleeding |
| gptkbp:treatment |
gptkb:immunotherapy
gptkb:surgery palliative care radiation therapy chemotherapy targeted therapy clinical trials for new drugs |
| gptkbp:bfsParent |
gptkb:Lynch_syndrome
|
| gptkbp:bfsLayer |
6
|