Genetic profile of primary mucinous cystadenocarcinoma of the breast—A case report

Primary mucinous cystadenocarcinoma of the breast is a rare neoplasm with few reports in the literature. Here, we report for the first time a comprehensive genetic profile of a primary mucinous cystadenocarcinoma of the breast, using next‐generation sequencing 580 cancer‐associated gene panel. Mutat...

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Bibliographic Details
Published inThe breast journal Vol. 27; no. 9; pp. 731 - 734
Main Authors Lin, Lawrence Hsu, Hernandez, Osvaldo, Zhu, Kelsey, Guth, Amber, Cotzia, Paolo, Darvishian, Farbod
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc 01.09.2021
Subjects
Abnormalities
Breast
breast neoplasms
Case reports
Cell cycle
Chromatin remodeling
invasive carcinoma
molecular profiling
mucinous cystadenocarcinoma
Mutation
p53 Protein
Tumor suppressor genes
Tumors
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Summary:Primary mucinous cystadenocarcinoma of the breast is a rare neoplasm with few reports in the literature. Here, we report for the first time a comprehensive genetic profile of a primary mucinous cystadenocarcinoma of the breast, using next‐generation sequencing 580 cancer‐associated gene panel. Mutations in TP53, RB1, and BAP1 were identified. The findings suggest that this tumor is driven mostly by abnormalities in tumor suppressor genes, primarily involved in cell cycle control and chromatin remodeling. Molecular characterization of additional primary mucinous cystadenocarcinomas of the breast is warranted and might provide information related to its biology and behavior.
Bibliography:Funding information
Paolo Cotzia, MD, Senior coauthor.
This work was supported by the Breast Cancer Research Foundation Grant (BCRF #19‐047)
ISSN:1075-122X
1524-4741
DOI:10.1111/tbj.14265