Radiotherapy in the treatment of hereditary breast cancer.
Hereditary breast cancer represents approximately 5% to 10% of breast cancers and a larger portion of patients with early-onset disease. Given the relatively recent identification of the BRCA1 and BRCA2 genes, the available literature with respect to outcomes related to radiation therapy has inherent limitations with relatively small patient numbers and a lack of prospective randomized trials. There is, however, a growing body of literature describing treatment and toxicity outcomes in patients undergoing radiation therapy after breast-conserving surgery and after mastectomy for breast cancer patients who have BRCA1 and BRCA2 mutations. Acknowledging the limitations in the available data, there does not appear to be any evidence of more severe normal tissue reactions or compromised long-term survival rates in women electing breast-conserving surgery and radiation. These studies are reviewed in this article. Outcomes related to radiation therapy in patients with variants in other breast cancer-related genes, such as p53, ATM, CHEK2, PALB2, and PTEN, are even less well documented because of the paucity of data. Available reports on radiation-related outcomes in these and single nucleotide polymorphisms in radiation repair and response genes are discussed.
Department of Radiation Oncology, University of Michigan, Ann Arbor, MI, USA. ljpierce@umich.edu
Lori J
LJ
Pierce
Bruce G
BG
Haffty
D000091162:AMP-Activated Protein Kinase Kinases; D064007:Ataxia Telangiectasia Mutated Proteins; D001943:Breast Neoplasms / Q000235:genetics* / Q000532:radiotherapy* / Q000601:surgery; D018797:Cell Cycle Proteins / Q000235:genetics; D064447:Checkpoint Kinase 2; D004268:DNA-Binding Proteins / Q000235:genetics; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D008408:Mastectomy; D015412:Mastectomy, Segmental; D009687:Nuclear Proteins / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics; D015996:Survival Rate; D025521:Tumor Suppressor Proteins / Q000235:genetics
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins; D064447:Checkpoint Kinase 2; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human; C000618935:BRIP1 protein, human; D020365:RNA Helicases