Novel germline PALB2 truncating mutations in African American breast cancer patients.

ABSTRACT:

Background

It has been demonstrated that the partner and localizer of breast cancer 2 (PALB2) acts as a bridging molecule between the breast cancer 1 (BRCA1) and BRCA2 proteins and is responsible for facilitating BRCA2-mediated DNA repair. Truncating mutations in the PALB2 gene reportedly are enriched in patients with Fanconi anemia and breast cancer in various populations.

Methods

The authors evaluated the contribution of PALB2 germline mutations in 279 African American women with breast cancer, including 29 patients with a strong family history, 29 patients with a moderate family history, 75 patients with a weak family history, and 146 patients with nonfamilial or sporadic breast cancer.

Results

After direct sequencing of all the coding exons, exon/intron boundaries

SUBMITTER: Zheng Y 

PROVIDER: S-EPMC3244533 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature