Absence of mutations in the Wilms' tumor gene WT1 in primary breast cancer.
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.


CONCLUSIONS
The results indicate that the wild-type WT1 gene plays an important role in the tumorigenesis of primary breast cancer.
Oji
Yusuke
Y
Department of Functional Diagnostic Science, Surgical Oncology, Molecular Medicine and Cancer Immunotherapy, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Miyoshi
Yasuo
Y
Kiyotoh
Eiji
E
Koga
Satoko
S
Nakano
Yoko
Y
Ando
Akiko
A
Hosen
Naoki
N
Tsuboi
Akihiro
A
Kawakami
Manabu
M
Ikegame
Kazuhiro
K
Oka
Yoshihiro
Y
Ogawa
Hiroyasu
H
Noguchi
Shinzaburo
S
Sugiyama
Haruo
H
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000096:biosynthesis; D017422:Sequence Analysis, DNA; D025721:WT1 Proteins / Q000096:biosynthesis / Q000235:genetics*
D012333:RNA, Messenger; D025721:WT1 Proteins