Reactome: A Curated Pathway Database

Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling

Stable Identifier
R-HSA-5339717
Type
Pathway
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

LRP5 is subject to an in-frame missplicing event in breast and parathyroid cancers that renders the protein insensitive to inhibition by the WNT antagonist DKK1. Expression of the mutant protein results in elevated levels of active, unphosphorylated beta-catenin and enhanced TCF-dependent WNT-signaling, promoting cellular proliferation (Bjorklund et al 2007a, b; Bjorklund et al, 2009).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
breast cancer 1612 malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
parathyroid carcinoma 1540 malignant neoplasm of parathyroid gland, malignant neoplasm of the Parathyroid, parathyroid gland cancer, neoplasm of parathyroid gland, carcinoma of Parathyroid gland, Parathyroid gland neoplasm, malignant tumor of parathyroid gland (disorder), parathyroid neoplasm