Hereditary breast and ovarian cancers

• 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
• ISSN: 0172-8113; 1432-1963
• DOI: 10.1007/s00292-010-1355-5

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.