PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

ABSTRACT:

Background

The PALB2 gene encodes a protein that plays a crucial role in maintaining genomic integrity. Germline inactivating mutations in PALB2 are associated with an increased risk of breast and ovarian cancer. The prevalence and spectrum of recurrent PALB2 germline mutations in breast and ovarian cancer patients from Poland is not clearly defined.

Methods

PALB2 exons were amplified from 460 BRCA1/2-mutation negative women with familial breast and/or ovarian cancer and early-onset breast cancer using AmpliSeq technology and sequenced on an Ion Torrent PGM sequencer. In addition, eight selected variants were genotyped using TaqMan assays in 807 BRCA1/2-mutation negative breast cancer patients and 1690 healthy women.

Results

Two recurrent PALB2 mutations, c.172_175del

SUBMITTER: Kluska A 

PROVIDER: S-EPMC5345197 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature