Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients

摘要: Introduction BRCA mutation testing allows index patients and their families to be provided with appropriate cancer risk-reduction strategies. Because of the low prevalence mutations in unselected breast high cost genetic testing, it is important identify subset women who are likely carry mutations. In present study, we examined association between BRCA1 / 2 germline immunohistochemical features cancer. Methods a retrospective review 498 had undergone at Seoul National University Bundang Hospital July 2003 September 2012, gathered information on estrogen receptor (er), progesterone (pr), her2 (human epidermal growth factor 2), cytokeratin 5/6, egfr (epidermal receptor), p53 status. Results Among 411 eligible for 50 (12.2%) or BRCA2 . Of 93 triple-negative (tnbc), 25 were identified ( BRCA1, 20.4%; BRCA2, 6.5%). On univariate analysis, er, pr, egfr, tnbc found related mutations, but multivariate only was significantly associated early-onset family history ovarian cancer, more prevalent group than non-tnbc group. Conclusions independent predictor risk hereditary cancers. Other histologic basal-like did not improve estimate risk.