MAML1
Overview
MAML1 (Mastermind Like Transcriptional Coactivator 1) is a transcriptional coactivator essential for canonical NOTCH signaling. As a component of the NOTCH transcriptional activation complex, MAML1 amplifies NOTCH target gene expression. In oral squamous cell carcinoma (OSCC), copy loss of MAML1 is part of the broader pattern of Notch pathway disruption that affects 66% of tumors.
Alterations observed in the corpus
- Copy loss of MAML1 detected by SNP array in OSCC; categorized as a Notch pathway modulator contributing to the 66% prevalence of Notch pathway alterations in oral squamous cell carcinoma. PMID:23619168
- MAML1 part of NOTCH-pathway alterations (NOTCH1–4, JAG1/JAG2, MAML1–3) totalling 31% of cases in a 109-case PDA WES cohort; amplification/mutation patterns nominate γ-secretase inhibitor MK0752 as a candidate therapy PMID:25855536
Cancer types (linked)
- HNSC (Head and Neck Squamous Cell Carcinoma) / OSCC: Copy loss observed; contributes to Notch pathway disruption alongside NOTCH1 mutations, TP63 alterations, and NUMB gains. Notch pathway altered in 66% (23/35) of OSCC tumors overall. PMID:23619168
Co-occurrence and mutual exclusivity
- MAML1 loss co-occurs with NOTCH1 mutations (9% of primary OSCC), TP63 alterations (34%), and NUMB copy gains as components of the Notch pathway disruption pattern in OSCC. PMID:23619168
Therapeutic relevance
- No direct therapeutic implications identified. Notch pathway disruption (including MAML1 loss) in OSCC is consistent with a tumor-suppressor role for NOTCH signaling; functional activation of NOTCH1 suppressed proliferation in HNSCC cell lines in the same study. PMID:23619168
Open questions
- The specific contribution of MAML1 copy loss versus other Notch pathway alterations (NOTCH1 mutation, TP63 overexpression, JAG ligand gains) to OSCC pathogenesis has not been independently dissected. PMID:23619168
Sources
This page was processed by crosslinker on 2026-05-14. - PMID:25855536
This page was processed by crosslinker on 2026-05-14.