Associated Genetic Biomarkers
BRCA1 Nonsense is present in 0.32% of AACR GENIE cases, with high grade ovarian serous adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence .
BRCA1 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 BRCA1 Nonsense as an inclusion criterion, 2 are phase 2 (2 open).
Trials with BRCA1 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 BRCA1 Nonsense as an inclusion criteria .
Significance of BRCA1 Nonsense in Diseases
Non-Small Cell Lung Carcinoma +
BRCA1 is altered in 3.53% of non-small cell lung carcinoma patients with BRCA1 Nonsense present in 0.37% of all non-small cell lung carcinoma patients .
BRCA1 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 BRCA1 Nonsense and non-small cell lung carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Prostate Carcinoma +
BRCA1 is altered in 1.24% of prostate carcinoma patients with BRCA1 Nonsense present in 0.09% of all prostate carcinoma patients .
BRCA1 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 BRCA1 Nonsense and prostate carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
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.