Human papillomavirus (HPV) DNA has been detected in breast carcinoma by different laboratorial techniques, suggesting the virus could play a role in the pathogenesis of this tumor. The aim of the present study is to investigate the presence of HPV in patients with breast carcinoma and the correlation of the viral infection with prognostic factors for the disease outcome. Between June 2001 and July 2002, 101 paraffin embedded breast carcinoma specimens were analyzed through polymerase chain reaction (PCR) and sequencing of HPV-E6 gene. Twenty specimens of reduction mammoplasty and 21 specimens of fibroadenomas were also studied as a non-malignant control group. Two different specific primer sets targeting E6 region of the HPVs 16 and 18 were used for the analysis. The HPV DNA was detected in 25 breast carcinomas (24.75%), but in none of the benign breast specimens ( p < 0.001). Out of the 25 positive cases, 14 were HPV-16 positive (56%) and 10 were HPV-18 positive (40%). An original finding was the detection of both HPV-16 and -18 in a single tumor (4%). The amplified viral sequences confirmed the presence of HPV-16 and -18. No correlation between the presence of HPV DNA and specific prognostic predictors for the disease outcome was observed. Our results suggest that the presence in the breast of either HPV-16 or -18 might be related to development of the malignant phenotype. Further studies are warranted.

We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.

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The number of non-responders was higher in patients with chronic hepatitis C virus infection, irrespective of histological status and viral load. It is suggested that such patients should receive a double dose of vaccine, particularly the ones with genotype 1.

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In an attempt to correlate the TP53 mutation pattern of squamous cell carcinomas of the esophagus (ESCC) and life style factors of patients from the high risk area Rio Grande do Sul, Brazil, 135 ESCC were analyzed, after prescreening by p53 immunohistochemistry, by SSCP and DNA sequencing of TP53, exon 5-9. Forty-nine somatic TP53 mutations (and 1 case with p53 polymorphism) were identified as missense (n ‫؍‬ 39), frameshift (n ‫؍‬ 6), silent (n ‫؍‬ 1), amber (n ‫؍‬ 1) or intron border mutations (n ‫؍‬ 2) that cause splicing aberrations. They were preferentially found in exon 5 (36.7%) and exon 8 (32.7%). Several mutations were located in the mutation hot spot codons 248, 273 and 282, mainly at CpG sites. Transition mutations were observed in 53.1% (among them 50% G > A), transversion mutations in 34.7% (among them 47.1% G > T) and frameshifts in 12.2%, the latter 2 mainly in smokers and alcohol drinkers. Transitions were more prevalent in females than in males (p < 0.05). TP53 mutations, mainly transversions, were more frequently found in heavy smokers (p ‫؍‬ 0.03), with the same tendency after chronic alcohol consumption. Comparison with the worldwide IARC database disclosed differences in the TP53 mutation pattern of the Brazilian tumors, with a higher accumulation of TP53 mutations in exon 8 and a higher prevalence of transition mutations. Mutations at the reported hot spot codon 176 were missing. Although difficult because of the documented coexposure to various life style risk factors in most patients of this series, the hypothesis is proposed that besides smoking and alcohol drinking the commonly consumed hot mate tea in this high risk area for ESCC is responsible for this different pattern of TP53 mutations because of chronic hyperthermic irritation and inflammation in the esophagus with an endogenous formation of radicals or carcinogenic factors that lead to a higher prevalence of transition mutations.

-Background -The prevalence and consequences of occult HBV infection in patients with chronic liver disease by HCV remain unknown. Aims -To evaluate the prevalence of occult HBV infection in a population of HCV-infected patients with hepatocellular carcinoma. Methods -The serum samples were tested for HBV DNA by nested PCR and liver tissue analysis was carried out using the immunohistochemical technique of 66 HBsAg-negative patients: 26 patients with chronic hepatitis by HCV (group 1), 20 with hepatocellular carcinoma related to chronic infection by HCV (group 2) and 20 with negative viral markers for hepatitis B and C (control group). Results -Occult HBV infection was diagnosed in the liver tissue of 9/46 (19.5%) HCV-infected patients. Prevalence of occult B infection was evaluated in the HCV-infected patients with and without hepatocellular carcinoma, and there were seven (77.7%) of whom from group 2, conferring a 35% prevalence of this group. No serum sample was positive for HBV DNA in the three groups. Conclusion -Occult infection B is frequently detected in liver tissue of HCV-infected patients, especially in cases of hepatocellular carcinoma. However large studies are needed to confi rm that co-infection could determine a worse progress of chronic liver disease in this population.

Our results suggest a higher prevalence of HPV infection in pregnant vs. non-pregnant women. This finding may be related to the relative immunosuppression observed in pregnant women, outlining the importance of the appropriate monitoring of the viral infection in this specific population.