Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

ABSTRACT:

Background

Germline TP53 mutations predispose to early onset breast cancer in women and are associated with Li-Fraumeni syndrome. Published data on the pathological characteristics of breast cancer among women with TP53 mutations is limited.

Methods

We retrospectively reviewed the clinical records of women who underwent genetic testing for suspected germline TP53 mutations and who were diagnosed with breast cancer between 2000 and 2011. The pathological characteristics of the breast tumors from patients testing positive for a mutation (cases) were compared with those testing negative (controls).

Results

Patients who tested positive for germlineTP53 mutations (n = 30) were compared with controls (n = 79). Human epidermal growth factor receptor 2 (HER2) amplification an

SUBMITTER: Melhem-Bertrandt A 

PROVIDER: S-EPMC3527897 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature