Associated Genetic Biomarkers
Associated Diseases

Overview

Gene Location [1]
1p36.13
Variant Type
Deletion - Frameshift
Gene
SDHB

SDHB Frameshift is present in 0.02% of AACR GENIE cases, with breast invasive ductal carcinoma, adenocarcinoma of the gastroesophageal junction, clear cell renal cell carcinoma, endometrial endometrioid adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with SDHB Frameshift

Significance of SDHB Frameshift in Diseases

Clear Cell Renal Cell Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Malignant Solid Tumor +

Gastrointestinal Stromal Tumor +

Non-Small Cell Lung Carcinoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

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 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.