Universität zu Köln

Wittersheim, Maike, Buettner, Reinhard and Markiefka, Birgid (2015). Genotype/Phenotype Correlations in Patients with Hereditary Breast Cancer. Breast Care, 10 (1). S. 22 - 29. BASEL: KARGER. ISSN 1661-3805

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Wittersheim, Maike UNSPECIFIED UNSPECIFIED UNSPECIFIED Buettner, Reinhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Markiefka, Birgid UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-417025
DOI:	10.1159/000380900
Journal or Publication Title:	Breast Care
Volume:	10
Number:	1
Page Range:	S. 22 - 29
Date:	2015
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	1661-3805
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GERMLINE MUTATIONS; OVARIAN CANCERS; BRCA1; SUSCEPTIBILITY; SUBTYPES; CHEK2; BASAL; CARCINOMA; PATHOLOGY; CLASSIFICATION Multiple languages Oncology; Obstetrics & Gynecology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/41702