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Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features
Journal article   Open access   Peer reviewed

Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features

Ahmed A. Abdulrahman, Rebecca C. Heintzelman, Melanie Corbman and Fernando U. Garcia
The breast journal, v 24(3), pp 291-297
May 2018
DOI: https://doi.org/10.1111/tbj.12930
PMID: 28986972
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705121View
Accepted (AM) Open Open Access (License Unspecified)

Abstract

ATM gene hereditary breast cancer variants of uncertain significance
The increasing availability of next‐generation sequencing for clinical research dramatically improved our understanding of breast cancer genetics and resulted in detection of new mutation variants. Cancer risk data relating to some of these variants are insufficient, prompting the designation of variants of uncertain significance (VUS). The histopathologic characteristics of these variants have not been previously described. We propose to depict these characteristics and determine if invasive carcinomas with similar VUS genes share similar histomorphologic features. In total, 28 invasive breast cancers with VUS were retrospectively identified. Tumor sections were reviewed and a predefined set of histopathologic characteristics were documented and compared. Nine of the 28 cases were variants in the ATM gene and were found to share similar histologic characteristics; all had tumor cells with low nuclear grade, absent tumor infiltrating lymphocytes, as well as a marked desmoplastic response. A subset of the above findings were identified in variants of other genes but none had all findings collectively. Furthermore, variants of ATM gene had smaller tumor size, lower pathologic T stage at presentation, and more favorable surrogate molecular subtype compared to variants of other genes. These findings could potentially be used to reclassify VUS and predict which patients may harbor ATM mutations, and hence could have implications in triaging toward ATM variant identification for potential future targeted therapy.

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4 citations in Web of Science
3 citations in Scopus

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Web of Science research areas
Obstetrics & Gynecology
Oncology
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