Peutz-Jeghers syndrome

GPTKB entity

Statements (52)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:associated_with increased cancer risk
STK11 gene mutations
gptkbp:can_be_used_to gastrointestinal bleeding
hamartomatous polyps
intussusception
melanotic macules
gptkbp:can_detect family history
gptkbp:can_lead_to gptkb:Oncology
gptkb:pancreatic_cancer
ovarian cancer
gastrointestinal cancers
gptkbp:cause intestinal polyps
gptkbp:characterized_by mucocutaneous pigmentation
gptkbp:diagnosis genetic testing
gptkbp:first_described_by gptkb:1949
https://www.w3.org/2000/01/rdf-schema#label Peutz-Jeghers syndrome
gptkbp:inherits_from autosomal dominant inheritance
gptkbp:is_associated_with increased surveillance recommendations
risk of other cancers
gptkbp:is_characterized_by pigmented lesions on the buccal mucosa
pigmented lesions on the fingers
pigmented lesions on the lips
polyps in the gastrointestinal tract
gptkbp:is_common_in certain ethnic groups
gptkbp:is_considered a hereditary cancer syndrome
gptkbp:is_described_as genetic counseling guidelines
gptkbp:is_documented_in gptkb:literature
gptkbp:is_linked_to germline mutations
lifetime cancer risk
gptkbp:is_managed_by multidisciplinary teams
gptkbp:is_monitored_by cancer development
gptkbp:is_noted_for its incomplete penetrance
its variable expressivity
gptkbp:is_part_of hereditary cancer syndromes
gptkbp:is_recognized_by gptkb:healthcare_professionals
gptkbp:is_studied_in oncology
gastroenterology
clinical genetics
gptkbp:named_after Herman Jeghers
Jan Peutz
gptkbp:prevalence 1 in 25,000 to 300,000 births
gptkbp:requires surgical interventions
endoscopic procedures
gptkbp:symptoms nausea
abdominal pain
diarrhea
freckling
gptkbp:treatment surveillance for cancer
surgical removal of polyps
gptkbp:bfsParent gptkb:Epithelial_ovarian_cancer
gptkbp:bfsLayer 6