Associated Genetic Biomarkers
Succinate dehydrogenase complex assembly factor 2 (SDHAF2) is a gene that encodes a mitochondrial protein. Missense mutations, synonymous mutations, and frameshift insertions have been observed in cancers such as colon cancer, kidney cancer, and skin cancer.
SDHAF2 is altered in 0.37% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, invasive breast carcinoma, colon adenocarcinoma, and breast invasive lobular carcinoma having the greatest prevalence of alterations .
The most common alterations in SDHAF2 are SDHAF2 Mutation (0.18%), SDHAF2 Amplification (0.14%), SDHAF2 Loss (0.04%), SDHAF2 S10L (0.02%), and SDHAF2 R154H (0.01%) .
SDHAF2 status serves as an inclusion eligibility criteria in 2 clinical trials, of which 2 are open and 0 are closed. Of the trials that contain SDHAF2 status as an inclusion criterion, 2 are phase 2 (2 open).
Trials with SDHAF2 status in the inclusion eligibility criteria most commonly target gastrointestinal stromal tumor .
The most frequent alterations to serve as inclusion eligibility criteria are SDHAF2 Deficient Expression and SDHAF2 Mutation .
Berzosertib and temozolomide are the most frequent therapies in trials with SDHAF2 as an inclusion criteria .
Significance of SDHAF2 in Diseases
Gastrointestinal Stromal Tumor +
SDHAF2 is altered in 0.15% of gastrointestinal stromal tumor patients .
SDHAF2 is an inclusion criterion in 2 clinical trials for gastrointestinal stromal tumor, of which 2 are open and 0 are closed. Of the trials that contain SDHAF2 status and gastrointestinal stromal tumor as inclusion criteria, 2 are phase 2 (2 open) .
Malignant Solid Tumor +
SDHAF2 is an inclusion criterion in 1 clinical trial for osteosarcoma, of which 1 is open and 0 are closed. Of the trial that contains SDHAF2 status and osteosarcoma 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. 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.