BACKGROUNDp73, a homologue of p53, has been located at chromosome 1p36-33, a region of frequently observed loss of heterozygosity in breast cancers. The objective of the present study was to investigate the function of p73 in Japanese with breast cancers.

METHODSSixty Japanese patients with breast cancer were assessed by polymerase chain reaction single strand confirmation polymorphism analysis and direct sequencing to detect the p73 allele. p73 mRNA levels were also determined in 40 out of 60 patients by reverse-transcriptional polymerase chain reaction.

RESULTSWe analyzed the entire open reading frame of the p73 gene by polymerase chain reaction single strand confirmation polymorphism and sequencing, and failed to identify any mutations of p73 in the encoding regions detected. Loss of heterozygosity of p73 was infrequent and only found in 9% of breast carcinomas. We revealed a few polymorphisms with a frequency of 13% - 29%, which had been reported previously. Down-regulation of p73 mRNA expression was observed in tumor tissues in comparison to the normal breast tissues. A significant inverse correlation was found between p73 transcripts and high histological grade, suggesting that down-regulated p73 expression could be related to poor prognosis in those patients.

CONCLUSIONOur results suggest that p73 may serve as a tumor suppressor gene and its expression plays a role in tumorigenesis in Japanese patients with breast cancer.

Breast Neoplasms ; genetics ; metabolism ; pathology ; Carcinoma ; genetics ; metabolism ; pathology ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Loss of Heterozygosity ; genetics ; Middle Aged ; Nuclear Proteins ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Tumor Protein p73 ; Tumor Suppressor Protein p53 ; genetics ; metabolism ; Tumor Suppressor Proteins ; genetics

OBJECTIVESThe aim of this study is to assess preserved umbilical cords as chemical exposure media to investigatein utero chemical exposure. Furthermore, we aim to apply preserved umbilical cords to retrospective studies of the relationship betweenin utero chemical exposure and neurodevelopment disorders.

METHODSTwo sets of preserved umbilical cord samples were analyzed for exposure to polychlorinated biphenyls (PCBs): one composed of samples from 20 healthy Japanese subjects and the other set included samples from 17 autistic patients and 7 healthy sibling of theirs.

RESULTSThe possibility of external PCBs contamination during storage of preserved umbilical cord samples was found, and due to this problem, the study design should be limited to the comparison between PCBs concentration in preserved cord samples from autistic patients and that in those from their sibling. Total PCBs concentrations in preserved cords from autistic patients and their control siblings were compared and we found no statistically significant difference between them (Wilcoxon signed rank test, p>0.05).

CONCLUSIONSThe association between autism andin utero PCBs exposure was not clarified in this study; however, retrospective studies such as a case-control study of siblings using preserved umbilical cords can be a method of choice for examining the possible relationship betweenin utero chemical exposure and child hood disorders.