Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
6p21.33
Protein [2]
Mediator of DNA damage checkpoint protein 1
Synonyms [1]
NFBD1

MDC1 is altered in 1.75% of all cancers with lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

MDC1 GENIE Cases - Top Diseases

The most common alterations in MDC1 are MDC1 Mutation (1.00%), MDC1 Amplification (0.11%), MDC1 Deletion (0.01%), MDC1 Loss (0.01%), and MDC1 D929N (0.01%) [3].

MDC1 GENIE Cases - Top Alterations

Significance of MDC1 in Diseases

Melanoma +

Urothelial Carcinoma +

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. 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.

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