Associated Genetic Biomarkers
PIK3CA M1043I is present in 0.13% of AACR GENIE cases, with breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive lobular carcinoma, and lung adenocarcinoma having the greatest prevalence .
PIK3CA M1043I is a predictive biomarker for use of alpelisib and fulvestrant in patients.
Of the therapies with PIK3CA M1043I as a predictive biomarker, 2 have NCCN guidelines in at least one clinical setting.
Breast carcinoma has the most therapies targeted against PIK3CA M1043I or its related pathways .
Alpelisib + Fulvestrant +
Breast Carcinoma -
Sample must match all of the following:
Sample must match one or more of the following:
PIK3CA E545Q, PIK3CA Q546K, PIK3CA Q546P, PIK3CA E365K, PIK3CA E453K, PIK3CA G1049R, PIK3CA G106V, PIK3CA G118D, PIK3CA K111E, PIK3CA K111N, PIK3CA M1043I, PIK3CA M1043V, PIK3CA N345K, PIK3CA P447_L455del, PIK3CA P539R, PIK3CA R108H, PIK3CA R88Q, PIK3CA R93W, PIK3CA T1025A, PIK3CA V344G, PIK3CA V344M
|Predicted Response: Primary Sensitivity|
|Clinical Setting(s): Metastatic (NCCN)|
|Note: Recommended for HR-positive, HER2-negative, PIK3CA-mutated, recurrent or metastatic breast cancer.|
Significance of PIK3CA M1043I in Diseases
Breast Carcinoma +
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.