Associated Genetic Biomarkers
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 .
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%) .
BLM status serves as an inclusion eligibility criteria in 7 clinical trials, of which 5 are open and 2 are closed. Of the trials that contain BLM status as an inclusion criterion, 2 are phase 1 (1 open) and 5 are phase 2 (4 open).
Trials with BLM status in the inclusion eligibility criteria most commonly target breast carcinoma, melanoma, bladder carcinoma, colorectal carcinoma, and head and neck carcinoma .
The most frequent alterations to serve as inclusion eligibility criteria are BLM Loss and BLM Mutation .
Olaparib, niraparib, carboplatin, cisplatin, and extended release flucytosine are the most frequent therapies in trials with BLM as an inclusion criteria .
Significance of BLM in Diseases
Malignant Solid Tumor +
Breast Carcinoma +
BLM is altered in 1.56% of breast carcinoma patients .
BLM is an inclusion criterion in 2 clinical trials for breast carcinoma, of which 1 is open and 1 is closed. Of the trials that contain BLM status and breast carcinoma as inclusion criteria, 1 is phase 1 (0 open) and 1 is phase 2 (1 open) .
Colorectal Carcinoma +
Urothelial Carcinoma +
Bladder Carcinoma +
Anaplastic Astrocytoma +
Non-Small Cell Lung Carcinoma +
BLM is altered in 2.02% of non-small cell lung carcinoma patients .
BLM is an inclusion criterion in 1 clinical trial for non-small cell lung carcinoma, of which 0 are open and 1 is closed. Of the trial that contains BLM status and non-small cell lung carcinoma as inclusion criteria, 1 is phase 1 (0 open) .
Head And Neck Carcinoma +
Small Cell Lung Carcinoma +
BLM is altered in 1.79% of small cell lung carcinoma patients .
BLM is an inclusion criterion in 1 clinical trial for small cell lung carcinoma, of which 0 are open and 1 is closed. Of the trial that contains BLM status and small cell lung carcinoma as inclusion criteria, 1 is phase 2 (0 open) .
Pancreatic Carcinoma +
Pancreatic Adenocarcinoma +
BLM is altered in 1.1% of pancreatic adenocarcinoma patients .
BLM is an inclusion criterion in 1 clinical trial for pancreatic adenocarcinoma, of which 1 is open and 0 are closed. Of the trial that contains BLM status and pancreatic adenocarcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Ovarian Carcinoma +
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.