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Genome Research publishes special issue: Cancer Genomics
Date:2/1/2012

of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency. Genome Res. doi:10.1101/gr.123109.111

2. Circulating free DNA holds clues to cancer diagnosis and risk of relapse

Despite recent advances that have improved breast cancer survival rates, means of monitoring residual disease and the risk for relapse with metastatic cancer have remained elusive. Circulating free DNA (cfDNA), present in the blood at low levels in healthy individuals but elevated in patients suffering from different cancers, has been suggested as a means of diagnosing disease. Because elevated cfDNA can also occur in benign disease, its utility in the clinic has been limited and thus there has been no reliable method using blood to diagnose patients with primary breast cancer or monitor relapse following treatment.

However, cfDNA might still be a key to efficient and reliable diagnosis of breast cancer and effective monitoring of potential for relapse. Shaw and colleagues recognized that a genomic analysis of cfDNA could shed light on the genetic signatures of disease progression. Utilizing genotyping technology that identifies single nucleotide variations and copy number variations in cfDNA and the DNA of primary tumors, the research group was able to distinguish between healthy individuals and patients with breast cancer. "CfDNA analysis can predict whether a patient has evidence of dormancy or not, and intriguingly, may predict the onset of relapse," said Dr. Jacqueline Shaw of the University of Leicester and lead author of the report.

The research team's analysis of patients on follow-up after treatment showed that even 12 years after diagnosis and despite no clinical evidence of disease reoccurrence, breast cancer patients still have cfDNA with genetic signatures of their primary cancer, suggesting dormancy of the cancer or minimal residual disease. Further
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Contact: Peggy Calicchia
calicchi@cshl.edu
516-422-4012
Cold Spring Harbor Laboratory
Source:Eurekalert

Page: 1 2 3 4 5 6 7

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