hereditary nonpolyposis colorectal cancer type 6

Summary
Synonym
  • HNPCC6
Definition
A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.
Super Class
Lynch syndrome
Disease Ontology
DOID:0070273
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7048 TGFBR2 transforming growth factor beta receptor 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P37173 TGF-beta receptor type-2
The Human Phenotype Ontology
Displaying entries 61 - 62 of 62 in total
HPO ID HPO Term
HP:0100835 Benign neoplasm of the central nervous system
HP:0200008 Intestinal polyposis
Displaying all 2 entries
Gene ID Gene Symbol Description
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
3845 KRAS KRAS proto-oncogene, GTPase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026