[Genes beyond BRCA1 and BRCA2 for hereditary breast cancer].
BACKGROUND
germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are identified in less than 50% of hereditary breast cancer cases. Besides BRCA1/2 further high-risk breast cancer genes are known; however they account only for a small fraction of inherited breast cancer cases. Most of them are involved in rare cancer predisposition syndromes. Moderate and low-risk breast cancer genes confer modest cancer risk up to 10% and may be more relevant due to polygenic inheritance. The majority of hereditary breast cancer cases are still caused by unknown genes.


CONCLUSIONS
genetic testing of other known genes is not yet routinely performed in families tested negative for BRCA1/2-mutations, but can be recommended in special patients. In case of a calculated high-risk situation, participation in an early-detection screening program should be recommended.


CONCLUSIONS
genetic susceptibility to breast cancer is heterogeneous and conferred by a large number of identified and yet undetected genes.
Simon
Katharina
K
Abteilung für Gynäkologie, Universitätsklinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität Graz, Österreich.
Geigl
Jochen B
JB
Pristauz
Gunda
G
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human