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The pathology of inherited breast tumours

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There is now a considerable body of information pertaining to the histopathological appearances of breast cancers arising in multiple case families due to germline mutations in breast cancer susceptibility genes. The evidence indicates that cancers in BRCA1 and BRCA2 mutation carriers differ overall in morphological indices seen by H+E staining from each other, and also from age-matched cases unselected for family history. BRCA1 cancers differ much more substantially from controls than BRCA2 cancers and overall are of higher grade. Differences between these groups are also seen immunohistochemically for a number of proteins. Notably, BRCA1 cancers are rarely ER positive compared to BRCA2 and controls. Cancers from families not due to either known gene but which are likely to be due to other, currently unknown susceptibility genes, also differ from BRCA1, BRCA2 and age-matched control cancers. These cancers are generally low grade lesions with the suggestion of an excess of lobular carcinoma cases. The significance of these histological differences with respect to prognosis remains controversial.

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Stratton, M. The pathology of inherited breast tumours. Breast Cancer Res 2 (Suppl 1), S.05 (2000).

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