Associated Genetic Biomarkers
APH1A gamma secretase subunit (APH1A) is a gene that encodes a seven-transmembrane-domain protein with an unknown function. The protein is a member of the gamma secretase complex. The complex cleaves membrane proteins such as beta-amyloid precursor proteins and Notch receptors. Missense mutations, silent mutations, and frameshift insertions are observed in cancers such as bone cancer, lung cancer, and skin cancer.
APH1A is altered in 0.37% of all cancers with colon adenocarcinoma, non-small cell lung carcinoma, osteoblastic osteosarcoma, and uterine corpus leiomyosarcoma having the greatest prevalence of alterations .
The most common alterations in APH1A are APH1A Mutation (0.25%), APH1A Amplification (1.42%), APH1A F54Y (0.08%), APH1A R247Q (0.08%), and APH1A Y90H (0.08%) .
APH1A status serves as an inclusion eligibility criteria in 2 clinical trials, of which 1 is open and 1 is closed. Of the trials that contain APH1A status as an inclusion criterion, 1 is phase 1 (0 open) and 1 is phase 2 (1 open).
Trials with APH1A status in the inclusion eligibility criteria most commonly target breast carcinoma, cholangiocarcinoma, and colon carcinoma .
The most frequent alteration to serve as an inclusion eligibility criterion is APH1A Mutation .
Al101, abemaciclib, carboplatin, cisplatin, and crenigacestat are the most frequent therapies in trials with APH1A as an inclusion criteria .
Significance of APH1A in Diseases
Breast Carcinoma +
APH1A is an inclusion criterion in 2 clinical trials for breast carcinoma, of which 1 is open and 1 is closed. Of the trials that contain APH1A status and breast carcinoma as inclusion criteria, 1 is phase 1 (0 open) and 1 is phase 2 (1 open) .
Colon Carcinoma +
Malignant Solid Tumor +
Soft Tissue Sarcoma +
APH1A is an inclusion criterion in 1 clinical trial for cholangiocarcinoma, of which 0 are open and 1 is closed. Of the trial that contains APH1A status and cholangiocarcinoma as inclusion criteria, 1 is phase 1 (0 open) .
APH1A is an inclusion criterion in 1 clinical trial for lymphoma, of which 0 are open and 1 is closed. Of the trial that contains APH1A status and lymphoma as inclusion criteria, 1 is phase 1 (0 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.