Universität zu Köln

Hahnen, Eric, Hauke, Jan, Engel, Christoph ORCID: 0000-0002-7247-282X, Neidhardt, Guido, Rhiem, Kerstin and Schmutzler, Rita K. (2017). Germline Mutations in Triple-Negative Breast Cancer. Breast Care, 12 (1). S. 15 - 22. BASEL: KARGER. ISSN 1661-3805

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Abstract

Triple-negative breast cancer (TN BC) is associated with a poor prognosis and defines a subgroup of patients who do not benefit from endocrine or anti-HER2 therapy. Rather than being a biological entity, TNBC represents a heterogeneous disease, and further subtyping is necessary to establish targeted therapies. Germline mutational status may serve as a robust biomarker predicting therapy response, especially with respect to compounds challenging the DNA repair machinery. Patients with TNBC usually show an early onset of the disease, as well as a positive family history of breast and/or ovarian cancer in more than one third of all cases, which suggests that TNBC is closely associated with a hereditary disease cause. In unselected TNBC cases, the prevalence of pathogenic germline BRCA1/2 mutations is approximately twice as high as in breast cancer overall. Early age at diagnosis and positive family history are strong predictors for an increased BRCA1/2 mutation probability, which is up to 40% when both risk factors are considered. Apart from BRCA1/2, the rarely mutated breast cancer predisposition genes PALB2 and FANCM have been associated with TNBC. This review summarizes the role of germline mutational status in TNBC pathogenesis. Clinical trials addressing BRCA1/2 mutation carriers are discussed. (C) 2017 S. Karger GmbH, Freiburg

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hahnen, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED Hauke, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Engel, Christoph UNSPECIFIED orcid.org/0000-0002-7247-282X UNSPECIFIED Neidhardt, Guido UNSPECIFIED UNSPECIFIED UNSPECIFIED Rhiem, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmutzler, Rita K. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-247223
DOI:	10.1159/000455999
Journal or Publication Title:	Breast Care
Volume:	12
Number:	1
Page Range:	S. 15 - 22
Date:	2017
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	1661-3805
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language OVARIAN-CANCER; PROSPECTIVE COHORT; FAMILY-HISTORY; BRCA MUTATIONS; SUSCEPTIBILITY; WOMEN; PREVALENCE; SURVIVAL; SUBTYPES; OUTCOMES Multiple languages Oncology; Obstetrics & Gynecology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/24722