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Clinical Cancer Research Vol. 5, 2297-2303, September 1999
© 1999 American Association for Cancer Research

Advances in Brief

Detecting Tumor-related Alterations in Plasma or Serum DNA of Patients Diagnosed with Breast Cancer1

Xu qi Chen, Hervé Bonnefoi, Sophie Diebold-Berger, Jacqueline Lyautey, Christine Lederrey, Ellen Faltin-Traub, Maurice Stroun and Philippe Anker2

Département de Biochimie et de Physiologie Végétale, Faculté des Sciences [X. q. C., J. L., C. L., M. S., P. A.] and Département de Pathologie, Faculté de Médecine [S. D-B.], Université de Genève, and Département de Gynécologie, Hôpital Cantonal Universitaire de Genève [H. B., E. F-T.], 1211 Geneva, Switzerland

Chromosomal abnormalities are associated with the development of breast cancer, and widespread allelic loss or imbalance is frequently found in tumor tissues taken from patients with this disease. Using different markers, we studied a total of 61 patients (divided into three groups) for the presence of microsatellite instability and loss of heterozygosity (LOH) in plasma or serum DNA. Of the initial 27 patients, 35% of the tumor samples displayed LOH, whereas 15% had identical alterations in the corresponding plasma samples. In addition, the adjacent normal breast tissue of two patients also displayed LOH. In a second group of 11 patients, 45% of the tumors displayed LOH, and 27% displayed identical plasma DNA alterations; one case displayed an identical LOH in adjacent nontumor tissue. In a third series of 23 patients also studied with tetranucleotide repeats, 81% of the tumor samples displayed LOH, whereas 48% had LOH in the corresponding serum samples. The fact that small tumors (T1) of histoprognostic grade 1 or in situ carcinomas could present DNA alterations in the plasma/serum at an early stage, allied to the widely increased range of available microsatellite markers, suggests that plasma or serum DNA may become a useful diagnostic tool for early and potentially curable breast cancer.




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