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Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.

Abstract：

BACKGROUND:Women with breast cancer who have multiple affected relatives are more likely to have inherited genetic risk factors for the disease. All the currently known genetic risk factors for breast cancer account for less than half of the average familial risk. Furthermore, the genetic factor(s) underlying an increased cancer risk for many women from multiple-case families remain unknown. Rare genomic duplications and deletions, known as copy number variants (CNVs), cover more than 10% of a human genome, are often not assessed in studies of genetic predisposition, and could account for some of the so-called "missing heritability". METHODS:We carried out a hypothesis-generating case-control study of breast cancer diagnosed before age 40 years (200 cases, 293 controls) using population-based cases from the Australian Breast Cancer Family Study. Genome-wide scanning for CNVs was performed using the Human610-Quad BeadChip and fine-mapping was conducted using PennCNV. RESULTS:We identified deletions overlapping two known cancer susceptibility genes, (BRCA1 and BLM), and a duplication overlapping SMARCB1, associated with risk. The number of deletions across the genome was 1.5-fold higher for cases than controls (P = 10-16), and 2-fold higher when only rare deletions overlapping genes (frequency <1%) were assessed (P = 5 × 10-4). Association tests of CNVs, followed by experimental validation of CNV calls, found deletions overlapping the OR4C11 and OR4P4 genes were associated with breast cancer (P = 0.02 and P = 0.03, respectively). CONCLUSION:These results suggest rare CNVs might have a role in breast cancer susceptibility, at least for disease at a young age.

journal_name

Breast Cancer Res

journal_title

Breast cancer research : BCR

authors

Walker LC,Pearson JF,Wiggins GA,Giles GG,Hopper JL,Southey MC

doi

10.1186/s13058-017-0825-6

subject

Has Abstract

pub_date

2017-03-16 00:00:00

pages

30

issue

1

eissn

1465-5411

issn

1465-542X

pii

10.1186/s13058-017-0825-6

journal_volume

19

pub_type

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