title: Breast conservation in BRCA1 or BRCA2 mutation carriers with early stage breast cancer.
abstract: The role of breast conservation therapy (limited surgery and irradiation of the breast with/without axilla) in the approximately 5% of breast cancer patients who harbour a germline mutation in BRCA1 or BRCA2, is a largely unexplored area and is seen by some as controversial. The relatively high cumulative risk of second primary cancers in such patients and concern about a possible decreased ability of mutation carriers to repair DNA damage caused by radiation has fuelled this controversy. Published studies of breast conservation therapy in carriers of a mutation in BRCA1 or BRCA2 are reviewed, with particular attention to their methodology. These studies have not demonstrated any increase in radiation sensitivity of normal tissues in mutation carriers, either in terms of increased early or late toxicity or tumourigenesis. Likewise, tumour sensitivity to radiotherapy, which might be expected based on the known functions of the BRCA1 and BRCA2 genes, has not been documented to date in mutation carriers. Further, methodologically rigorous studies of large numbers of breast cancer patients who carry a mutation in BRCA1 or BRCA2 are required to fully elucidate these issues.
authors.affiliation: Department of Haematology, Peter MacCallum Cancer Institute, East Melbourne, Victoria, Australia. PhillipsKelly@petermac.unimelb.edu.au
authors.forename: K A
authors.initials: KA
authors.lastname: Phillips
authors.forename: M J
authors.initials: MJ
authors.lastname: McKay
mesh_terms: D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics / Q000601:surgery*; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D015412:Mastectomy, Segmental; D009363:Neoplasm Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors