title: Genotype/Phenotype correlations in patients with hereditary breast cancer.
abstract: Of all breast cancer cases, 5-10% can be attributed to germline mutations, and the high-susceptibility genes BRCA1 and BRCA2 account for about 25-28% of these cases. For the remainder, several genes of moderate and low penetrance have been discovered. Histopathologic characteristics have been studied in small cohorts, but for most of the known non-BRCA1/2-associated hereditary breast cancers, the histologic and immunohistochemical phenotypes are not yet identified. Particularly BRCA1 tumors are associated with a distinct morphology and immunohistochemical characteristics that differ from sporadic breast cancer of age-matched controls. The recognition of features characteristic of these mutations can be helpful to identify patients likely to carry a germline mutation and to assess which gene should be screened for first, in families with a high occurrence of breast and ovarian cancer.
authors.affiliation: Institute for Pathology, University Hospital Cologne, Germany.
authors.forename: Maike
authors.initials: M
authors.lastname: Wittersheim
authors.affiliation: Institute for Pathology, University Hospital Cologne, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Büttner
authors.affiliation: Institute for Pathology, University Hospital Cologne, Germany.
authors.forename: Birgid
authors.initials: B
authors.lastname: Markiefka
keywords: BRCA mutation; Genotype/phenotype correlations; Hereditary breast cancer; Intrinsic subtypes