Overview

Location [1]
2q22.1-q22.2
Pathway
Hormone signaling
Protein [2]
Low-density lipoprotein receptor-related protein 1B
Synonyms [1]
LRPDIT, LRP-DIT, LRP-1B

Low density lipoprotein receptor-related protein 1B (LRP1B) is a gene that encodes a protein that is a member of the low density lipoprotein (LDL) receptor family. These receptor proteins function in receptor-mediated endocytosis. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as lung cancer, skin cancer, and stomach cancer.

LRP1B is altered in 2.74% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, melanoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

LRP1B GENIE Cases - Top Diseases

The most common alterations in LRP1B are LRP1B Mutation (11.40%), LRP1B Loss (0.45%), LRP1B R2553Q (0.14%), LRP1B S2508F (0.11%), and LRP1B E4182K (0.18%) [3].

LRP1B GENIE Cases - Top Alterations

Significance of LRP1B in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Medulloblastoma, SHH-Activated +

Medulloepithelioma +

High-Grade Glioma, NOS +

Anaplastic Oligodendroglioma +

Atypical Teratoid/Rhabdoid Tumor +

Glioblastoma +

Desmoplastic/Nodular Medulloblastoma +

Malignant Glioma +

Diffuse Glioma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Anaplastic Astrocytoma +

Anaplastic Ependymoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, WNT-Activated +

Pineoblastoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.