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Cellular Oncology
Published in: Cellular Oncology 2/2011

Open Access 01-04-2011 | Original Paper

Pathology of hereditary breast cancer

Authors: Petra van der Groep, Elsken van der Wall, Paul J. van Diest

Published in: Cellular Oncology | Issue 2/2011

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Abstract

Background

Hereditary breast cancer runs in families where several members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers. Other genes that include CHEK2, PTEN, TP53, ATM, STK11/LKB1, CDH1, NBS1, RAD50, BRIP1 and PALB2 have been described to be high or moderate penetrance breast cancer susceptibility genes, all contributing to the hereditary breast cancer spectrum. However, in still a part of familial hereditary breast cancers no relationship to any of these breast cancer susceptibility genes can be found. Research on new susceptibility genes is therefore ongoing.

Design

In this review we will describe the function of the today known high or moderate penetrance breast cancer susceptibility genes and the consequences of their mutated status. Furthermore, we will focus on the histology, the immunophenotype and genotype of breast cancers caused by mutations in BRCA1 and BRCA2 genes and the other high or moderate penetrance breast cancer susceptibility genes. Finally, an overview of the clinical implications of hereditary breast cancer patients will be provided.

Conclusion

This information leads to a better understanding of the morphological, immunohistochemical and molecular characteristics of different types of hereditary breast cancers. Further, these characteristics offer clues for diagnosis and new therapeutic approaches.
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Metadata
Title
Pathology of hereditary breast cancer
Authors
Petra van der Groep
Elsken van der Wall
Paul J. van Diest
Publication date
01-04-2011
Publisher
Springer Netherlands
Published in
Cellular Oncology / Issue 2/2011
Print ISSN: 2211-3428
Electronic ISSN: 2211-3436
DOI
https://doi.org/10.1007/s13402-011-0010-3

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