Associated Genetic Biomarkers
Associated Pathways

Overview

Gene Location [1]
12p13.1
Pathway
Cell cycle control
Variant Type
Amplification
Gene
CDKN1B

CDKN1B Amplification is present in 0.67% of AACR GENIE cases, with breast invasive ductal carcinoma, testicular mixed germ cell tumor, high grade ovarian serous adenocarcinoma, seminoma, and central nervous system mixed germ cell tumor having the greatest prevalence [4].

Top Disease Cases with CDKN1B Amplification

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. 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 6. 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.