Hereditary breast and ovarian cancers

Hereditary factors are responsible for 5-10% of all breast cancers and 10% of all ovarian cancer cases and are predominantly caused by mutations in the high risk genes BRCA1 and BRCA2 (BRCA: breast cancer). Additional moderate and low penetrance gene variants are currently being analyzed via whole g...

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Bibliographic Details
Published in:Der Pathologe 2010-10, Vol.31 (6), p.438-444
Main Authors: Gevensleben, H, Serçe, N, Büttner, R
Format: Article
Language:eng ; ger
Subjects:
BRCA-Gen
Breast Neoplasms - drug therapy
Breast Neoplasms - epidemiology
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Chromosome Mapping
Chromosomes, Human, Pair 17
Enzyme Inhibitors - therapeutic use
Familiäres Risiko
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Germany
Hereditäres Mammakarzinom
Hereditäres Ovarialkarzinom
Humans
Incidence
Mutation
PARP-Inhibitor
Poly(ADP-ribose) Polymerase Inhibitors
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Summary:Hereditary factors are responsible for 5-10% of all breast cancers and 10% of all ovarian cancer cases and are predominantly caused by mutations in the high risk genes BRCA1 and BRCA2 (BRCA: breast cancer). Additional moderate and low penetrance gene variants are currently being analyzed via whole genome association studies. Interdisciplinary counseling, quality managed genetic testing and intensified prevention efforts in specialized medical centres are essential for members of high risk families considering the high prevalence of malignant tumors and the early age of onset. Furthermore, the identification of BRCA-deficient carcinomas is of particular clinical interest, especially regarding new specific therapeutic options, e.g. treatment with poly (ADP-ribose) polymerase (PARP) inhibitors. There are presently no valid surrogate markers verifying the association of BRCA1/BRC2 in tumors. However, breast cancers harboring pathogenic BRCA1 mutations in particular display specific histopathological features.
ISSN:0172-8113
1432-1963
DOI:10.1007/s00292-010-1355-5