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Japanese Journal of Clinical Oncology 34:74-77 (2004)
© 2004 Foundation for Promotion of Cancer Research

Absence of Mutations in the Wilms’ Tumor Gene WT1 in Primary Breast Cancer

Yusuke Oji1, Yasuo Miyoshi2, Eiji Kiyotoh1, Satoko Koga1, Yoko Nakano1, Akiko Ando2, Naoki Hosen3, Akihiro Tsuboi4, Manabu Kawakami4, Kazuhiro Ikegame4, Yoshihiro Oka3, Hiroyasu Ogawa3, Shinzaburo Noguchi2 and Haruo Sugiyama1,+

Departments of 1 Functional Diagnostic Science, 2 Surgical Oncology, 3 Molecular Medicine and 4 Cancer Immunotherapy, Osaka University Graduate School of Medicine, Suita, Osaka, Japan

Background: It was recently demonstrated that the WT1 gene was overexpressed in primary breast cancer and that the high expression levels of WT1 mRNA significantly correlated with poor prognosis. However, it remained undetermined whether or not the WT1 gene expressed in breast cancer had mutations.

Methods: Breast cancer tissues were obtained from 36 patients with breast cancer. WT1 genomic DNA was PCR-amplified and examined for mutations by direct sequencing.

Results: The sequencing analysis showed the absence of mutations through the whole 10 exons of the WT1 gene in the 36 cases of primary breast cancer. Two different single nucleotide polymorphisms (SNP) without an amino acid change (Pro42, C to T in exon 1, and/or Arg300, A to G in exon 7) were detected in the WT1 gene in 31 (86%) of the 36 cases examined.

Conclusion: The results indicate that the wild-type WT1 gene plays an important role in the tumorigenesis of primary breast cancer.

+ For reprints and all correspondence: Haruo Sugiyama, Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, 1–7 Yamada-Oka, Suita, Osaka 565-0871, Japan. E-mail: sugiyama{at}sahs.med.osaka-u.ac.jp


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