zlyy001_raw_1.fq.gz

<b>Background:</b> Mucinous cystadenocarcinoma (MCA) of the breast is a rare and distinct type of mammary tract adenocarcinoma. There is lack of information on molecular alterations in MCA in the current epidemiological data. <b>Methods:</b> We summarized the clinicopathological characteristics and performed exome sequencing on formalin-fixed, paraffin-embedded blocks from three patients with mammary MCA culled from the surgical pathology archives of Chongqing University Cancer Hospital. The tumor mutation landscape of these patients was determined using whole-exome sequencing. We assessed cancer effect sizes and analyzed the contribution of mutational processes to each oncogenic variant, quantifying the extent to which each process contributed to tumorigenesis/cancer effects. <b>Results:</b> We identified a significant mutant gene, bone morphogenetic protein 2 (BMP2), that is associated with breast MCA. Furthermore, we evaluated the expression by immunohistochemistry in patients with breast MCA and predicted the potential molecular functions of BMP2 in breast cancer through in silico analyses. <b>Conclusion: </b>Using whole-exome sequencing, immunohistochemistry, and in silico analyses, we identified BMP2 as being implicated in MCA progression, and as having potential implications for predicting target therapy and patient outcomes.