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Associated Genetic Biomarkers
BRCA2 Nonsense is present in 0.48% of AACR GENIE cases, with lung adenocarcinoma, prostate adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence .
BRCA2 Nonsense serves as an inclusion eligibility criterion in 2 clinical trials, of which 2 are open and 0 are closed. Of the trials that contain BRCA2 Nonsense as an inclusion criterion, 2 are phase 2 (2 open).
Trials with BRCA2 Nonsense in the inclusion eligibility criteria most commonly target breast carcinoma, ovarian carcinoma, primary peritoneal carcinoma, fallopian tube endometrioid adenocarcinoma, and high grade fallopian tube serous adenocarcinoma .
Radiation therapy, olaparib, rucaparib, talazoparib, and durvalumab are the most frequent therapies in trials with BRCA2 Nonsense as an inclusion criteria .
Significance of BRCA2 Nonsense in Diseases
Prostate Carcinoma +
BRCA2 is altered in 6.61% of prostate carcinoma patients with BRCA2 Nonsense present in 0.99% of all prostate carcinoma patients .
BRCA2 Nonsense is an inclusion criterion in 1 clinical trial for prostate carcinoma, of which 1 is open and 0 are closed. Of the trial that contains BRCA2 Nonsense and prostate carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Non-Small Cell Lung Carcinoma +
BRCA2 is altered in 4.54% of non-small cell lung carcinoma patients with BRCA2 Nonsense present in 0.51% of all non-small cell lung carcinoma patients .
BRCA2 Nonsense is an inclusion criterion in 1 clinical trial for non-small cell lung carcinoma, of which 1 is open and 0 are closed. Of the trial that contains BRCA2 Nonsense and non-small cell lung carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
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.