Overview

Location [1]
15q26.1
Protein [2]
Bloom syndrome protein
Synonyms [1]
BS, RECQL2, RECQL3, RECQ2

Bloom syndrome, RecQ helicase-like (BLM) is a gene that encodes a protein that possesses DNA helicases and functions in DNA-stimulated ATPase and ATP dependent DNA helicase processes. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

BLM is altered in 2.05% of all cancers with colon adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

BLM GENIE Cases - Top Diseases

The most common alterations in BLM are BLM Mutation (1.85%), BLM N515fs (0.16%), BLM Amplification (0.15%), BLM D757fs (0.03%), and BLM K1217fs (0.03%) [3].

BLM GENIE Cases - Top Alterations

Significance of BLM in Diseases

Malignant Solid Tumor +

Melanoma +

Breast Carcinoma +

Colorectal Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Anaplastic Astrocytoma +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Carcinoma +

Small Cell Lung Carcinoma +

Uveal Melanoma +

Lymphoma +

Pancreatic Carcinoma +

Cholangiocarcinoma +

Ovarian Carcinoma +

Sarcoma +

Mesothelioma +

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.