Abstract

BackgroundHereditary 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.DesignIn 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.ConclusionThis 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.

Highlights

  • ConclusionThis information leads to a better understanding of the morphological, immunohistochemical and molecular characteristics of different types of hereditary breast cancers

  • In 1866, Paul Broca was the first to describe a family with a high prevalence of carcinoma of the breast

  • We recently showed that the immunophenotype of ductal carcinoma in situ (DCIS) in BRCA1 carriers is similar to that of their accompanying invasive cancers [190]

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Summary

Conclusion

This information leads to a better understanding of the morphological, immunohistochemical and molecular characteristics of different types of hereditary breast cancers. Division of Internal Medicine, University Medical Center Utrecht, Utrecht, The Netherlands

Introduction
Discovery
Structure
Function
Mutations
Population specific occurrence
Histology
Immunophenotype
Genetic profile
Prognosis
Other hereditary breast cancer genes
Mismatch repair
Pathology of non-BRCA1 or non-BRCA2 related breast cancers
FANCONI
Clinical relevance
Findings
Conclusions
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