Gene Location [1]
Variant Type

BLM Loss is present in 0.03% of AACR GENIE cases, with high grade ovarian serous adenocarcinoma, gastrointestinal stromal tumor, breast invasive ductal carcinoma, invasive breast carcinoma, and mammary analog secretory carcinoma of salivary gland having the greatest prevalence [4].

Top Disease Cases with BLM Loss

Significance of BLM Loss in Diseases

Malignant Solid Tumor +

Melanoma +

Ovarian Carcinoma +

Sarcoma +

Head And Neck Carcinoma +

Breast Carcinoma +

Anaplastic Astrocytoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Lymphoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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