Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort.

ABSTRACT: Breast cancer is the most common tumor in women with Li-Fraumeni Syndrome (LFS), an inherited cancer syndrome associated with germline mutations in the TP53 tumor suppressor gene. Their lifetime breast cancer risk is 49% by age 60. Breast cancers in TP53 mutation carriers recently have more often been reported to be hormone receptor and HER-2 positive by immunohistochemistry and FISH in small series. We seek to complement the existing small literature with this report of a histopathologic analysis of breast cancers from women with documented LFS. Unstained slides and paraffin-embedded tumor blocks from breast cancers from 39 germline TP53 mutation carriers were assembled from investigators in the LFS consortium. Central histology review was performed on 93% of the specimens by a single bre

SUBMITTER: Masciari S 

PROVIDER: S-EPMC3709568 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature