ASSOCIATION BETWEEN DMD GENE ALTERATIONS AND OVERALL SURVIVAL IN BREAST INVASIVE CARCINOMA

*Bharath Krishna Thekkethara Amarjeev

ABSTRACT

Breast invasive carcinoma is a heterogeneous malignancy in which several well-established genes, such as BRCA1, BRCA2, and TP53, have undergone extensive study. More recently, the DMD gene, which codes for the protein dystrophin, has gained attention in cancer research because of its proposed tumour-suppressive functions and its association with tumour progression and patient prognosis (Wang et al., 2014; Luce et al., 2017). This study investigated the association between DMD alterations, based on the cBioPortal query function using the prompt "DMD", and overall survival in patients with breast invasive carcinoma. Three TCGA datasets - PanCancer Atlas, Cell 2015, and Firehose Legacy - were analysed using cBioPortal (Cerami et al., 2012; Liu et al., 2018). Patients were divided into DMD-altered and DMD-unaltered groups, and survival outcomes were compared using Kaplan-Meier analysis, log-rank p values, q values, median overall survival, and hazard ratios. Across all three datasets, the altered group showed shorter median overall survival than the unaltered group, with observed differences in median survival ranging from 35.87 to 45.53 months. The datasets also produced log-rank p values below 0.05, although the q value for PanCancer Atlas increased to 0.0958 following cBioPortal's multiple-testing adjustment. The hazard-ratio estimates ranged from 1.862 to 2.029, indicating a consistent direction towards higher mortality hazard in the altered group, despite the wide confidence intervals. These findings suggest that DMD alterations may be associated with poorer overall survival in patients with breast invasive carcinoma. However, the small altered patient population, possible overlap among the TCGA datasets, and statistical uncertainty indicate that these findings should be interpreted with caution. Furthermore, larger datasets and multivariable survival models are required to determine whether DMD alterations can reliably predict prognosis in patients with breast invasive carcinoma.

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