Incorporating tumor immunohistochemical markers in BRCA1 and BRCA2 carrier prediction

Recent studies have demonstrated that histopathologic features of inherited breast cancers due to BRCA1 gene mutations often differ from those of sporadic breast cancer and from breast cancers caused by germline BRCA2 mutations. Invasive breast carcinomas in individuals with germline BRCA1 gene mutations tend to be of higher grade, either basal-type or basal-like, estrogen receptor (ER) negative, progesterone receptor (PR) negative, HER2-Neu (ERBB-2) negative, cytokeratin 5/6 (CK5/6) positive, CK14 positive. Incorporating this information into our Mendelian risk prediction model, BRCAPRO may allow for improved estimation of BRCA1 and BRCA2 carrier risk.