Hereditary breast cancer: from bench to bedside.

摘要: PURPOSE OF REVIEW: The proportion of breast cancers directly attributable to determinant hereditary factors is estimated be 5-10%. A number recent findings with regard cancer should affect the criteria and scope routine genetic testing and, soon, therapy. RECENT FINDINGS: genes causing has expanded, mostly that encode proteins function in BRCA1/2 pathways. risk level associated some still under investigation, but high for specific mutations. Some mutant alleles occur frequently, are rare. High-throughput technologies will progressively allow investigating all involved (breast) risks individuals whom this information could relevant. This emerging novel treatment options mutation carriers oblige us drop currently used selection such as familial phenotype genomic testing. major challenge remains effective penetration knowledge professional lay community, broad application financing high-throughput technology, identification yet unknown predisposition genes. SUMMARY: assessment genes, previously only an optional predictive test, growing importance it also becomes a therapeutic test.