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Breast Cancer Research
Published in: Breast Cancer Research 1/2013

Open Access 01-02-2012 | Research article

Germline DNA copy number variation in familial and early-onset breast cancer

Authors: Ana CV Krepischi, Maria Isabel W Achatz, Erika MM Santos, Silvia S Costa, Bianca CG Lisboa, Helena Brentani, Tiago M Santos, Amanda Gonçalves, Amanda F Nóbrega, Peter L Pearson, Angela M Vianna-Morgante, Dirce M Carraro, Ricardo R Brentani, Carla Rosenberg

Published in: Breast Cancer Research | Issue 1/2013

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Abstract

Introduction

Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease."

Methods

Using whole-genome comparative genomic hybridization on microarrays, we screened a cohort of women fulfilling criteria for hereditary breast cancer who did not carry BRCA1/BRCA2 mutations.

Results

The median numbers of total and rare CNVs per genome were not different between controls and patients. A total of 26 rare germline CNVs were identified in 68 cancer patients, however, a proportion that was significantly different (P = 0.0311) from the control group (23 rare CNVs in 100 individuals). Several of the genes affected by CNV in patients and controls had already been implicated in cancer.

Conclusions

This study is the first to explore the contribution of germline CNVs to BRCA1/2-negative familial and early-onset breast cancer. The data suggest that rare CNVs may contribute to cancer predisposition in this small cohort of patients, and this trend needs to be confirmed in larger population samples.
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Metadata
Title
Germline DNA copy number variation in familial and early-onset breast cancer
Authors
Ana CV Krepischi
Maria Isabel W Achatz
Erika MM Santos
Silvia S Costa
Bianca CG Lisboa
Helena Brentani
Tiago M Santos
Amanda Gonçalves
Amanda F Nóbrega
Peter L Pearson
Angela M Vianna-Morgante
Dirce M Carraro
Ricardo R Brentani
Carla Rosenberg
Publication date
01-02-2012
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 1/2013
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr3109

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