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Review
. 2020 Jun;26(6):1123-1131.
doi: 10.1111/tbj.13861. Epub 2020 May 4.

Genotype-phenotype associations in breast pathology: Achievements of the past quarter century

Kristen E Muller  1   2 , Jonathan D Marotti  1   2
Affiliations
Review

Genotype-phenotype associations in breast pathology: Achievements of the past quarter century

Kristen E Muller et al. Breast J. 2020 Jun.

Abstract

The first genotype-phenotype relationship in breast pathology developed in 1994 with the discovery of the CDH1 gene. This finding eventually provided biological insight into the characteristic morphology of invasive lobular carcinoma. Subsequent investigative efforts have uncovered additional molecular alterations largely responsible for the histology of several breast neoplasms including secretory carcinoma, adenoid cystic carcinoma, tall cell carcinoma with reversed polarity, fibroepithelial lesions, and most recently, adenomyoepithelioma. Evaluation of the genomic landscape of other special types of breast cancer with distinctive growth patterns, such as invasive mucinous carcinoma, have yet to uncover recurring cytogenetic and/or molecular alterations. Despite the lack of a hallmark alteration in mucinous carcinoma, it is important to note the relative decrease in PIK3CA mutations compared with invasive carcinoma of no special type. In this review, we describe the clinical and pathologic features of breast tumors with recognized genotype-phenotype correlations and summarize the molecular alterations of mucinous carcinoma.

Keywords: breast pathology; cancer; genotype-phenotype.

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References

REFERENCES

    1. Berx G, Cleton-Jansen AM, Nollet F, et al. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 1995;14:6107-6115.
    1. Berx G, Cleton-Jansen AM, Strumane K, et al. E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. Oncogene. 1996;13:1919-1925.
    1. van Roy F, Berx G. The cell-cell adhesion molecular E-cadherin. Cell Mol Life Sci. 2008;65:3756-3788.
    1. Ciriello G, Gatza M, Beck A, et al. Comprehensive molecular portraits of invasive lobular breast cancer. Cell. 2015;163:506-519.
    1. Da Silva L, Parry S, Reid L, et al. Aberrant expression of E-cadherin in lobular carcinomas of the breast. Am J Surg Pathol. 2008;32:773-783.

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