Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers.

ABSTRACT:

Background

Genomic rearrangements at the fragile site FRA1E may disrupt the dihydropyrimidine dehydrogenase gene (DPYD) which is involved in 5-fluorouracil (5-FU) catabolism. In triple-negative breast cancer (TNBC), a subtype of breast cancer frequently deficient in DNA repair, we have investigated the susceptibility to acquire copy number variations (CNVs) in DPYD and evaluated their impact on standard adjuvant treatment.

Methods

DPYD CNVs were analysed in 106 TNBC tumour specimens using multiplex ligation-dependent probe amplification (MLPA) analysis. Dihydropyrimidine dehydrogenase (DPD) expression was determined by immunohistochemistry in 146 tumour tissues.

Results

In TNBC, we detected 43 (41%) tumour specimens with genomic deletions and/or duplications within DP

SUBMITTER: Gross E 

PROVIDER: S-EPMC3817342 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature