Overview

Location [1]
1q22
Protein [2]
Mucin-1 subunit beta
Synonyms [1]
PEMT, KL-6, EMA, ADMCKD1, MUC-1, MCKD, PUM, MCD, MUC1/ZD, MUC-1/SEC, H23AG, "CA 15-3", MAM6, PEM, CD227, ADMCKD, MCKD1, MUC-1/X

Mucin 1, cell surface associated (MUC1) is a gene that encodes a protein that functions in forming protective mucous barriers on epithelial surfaces. The protein is also important in intracellular signaling. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions and insertions are observed in cancers such as bone cancer, intestinal cancer, and skin cancer.

MUC1 is altered in 0.09% of all cancers with high grade ovarian serous adenocarcinoma, breast invasive ductal carcinoma, cancer of unknown primary, cancer of unknown primary, NOS, and colon adenocarcinoma having the greatest prevalence of alterations [3].

MUC1 GENIE Cases - Top Diseases

The most common alterations in MUC1 are MUC1 I395V (0.22%), MUC1 K409N (1.85%), MUC1 P3L (1.85%), MUC1 P466T (0.85%), and MUC1 Q41E (0.39%) [3].

MUC1 GENIE Cases - Top Alterations

Significance of MUC1 in Diseases

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Fallopian Tube Carcinoma +

Hepatocellular Carcinoma +

Cancer +

Malignant Solid Tumor +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Multiple Myeloma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Primary Peritoneal Carcinoma +

Uterine Corpus Carcinosarcoma +

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 8. 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.