Some bladder cancers can be the result of genetic predisposition or chromosomal abnormalities, but no clinical useful molecular marker exists to identify patients with higher risk ofrecurrence. We ...analyzed the recurrence rate in patients with three variants of tumor suppressor gene mutation, checkpoint kinase 2 (CHEK2). The endpoint of the study was to evaluate the rate, risk of recurrence and free-recurrence survival during 24-months observation time in CHEK2 positive (CHEK2+) and control group.
The observation group consisted of 24 CHEK2+ patients among 445 treated on account of bladder cancer. Patients with > or = T2 and/or G3 disease were excluded from the study. Control group included 44 consecutive patients with superficial bladder cancer (SBC). Clinical data were collected from the patients' clinical records and correlated with chromosomal studies.
Tumor grade had no impact on risk of recurrence. Stage T1 revealed to be the strong recurrence predictor until 15th month of follow-up when compared to stage Ta. CHEK2 mutations strongly correlated (odds ratio = 6.47; p = 0.08) with the risk of recurrence comparing to T1 stage (OR = 1.49), and grade 2 (OR = 0.85). CHEK2 factor was also significant risk factor for the number of recurrences in particular periods of follow-up.
The results indicate that patients with CHEK2 mutation may present poorer clinical course with several recurrences of SBC. It also suggests a possible prognostic significance of CHEK2 analysis in identifying patients with higher risk of recurrence, which may imply more aggressive treatment modalities or necessity of modified follow-up schedule.
Genetic variability in DNA repair genes may contribute to differences in DNA repair capacity and susceptibility to colon polyps and cancer. In this study, we examined the role of MGMT polymorphisms ...in colon polyps formation.
PCR-SSCP analysis was performed included 254 patients with colon polyps and 330 controls.
The homozygous F84F genotype was significantly more prevalent in study group than in controls. The polymorphic allele 84F was more frequent appeared in group of older patients and in group of smoking patients. On the other hand, there were no association between 84F and gender, size of polyps, cancer family history.
We concluded that high frequency of 84F allele in the group of patients may suggest the role of the MGMT variant in colon polyps etiology.
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored ...and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized. The continued identification of new genes and biomarkers specific to disease subtypes and individual patients is essential and inevitable for translation into personalized medicine, in estimating both, disease risk and response to therapy. Taking into consideration the mostly unsolved necessity of tailored therapy in oncology the innovative project MOBIT (molecular biomarkers for individualized therapy) was designed. The aims of the project are: (i) establishing integrative management of precise tumor diagnosis and therapy including systematic biobanking, novel imaging techniques, and advanced molecular analysis by collecting comprehensive tumor tissues, liquid biopsies (whole blood, serum, plasma), and urine specimens (supernatant; sediment) as well as (ii) developing personalized lung cancer diagnostics based on tumor heterogeneity and integrated genomics, transcriptomics, metabolomics, and radiomics PET/MRI analysis. It will consist of 5 work packages. In this paper the rationale of the Polish MOBIT project as well as its design is presented. (iii) The project is to draw interest in and to invite national and international, private and public, preclinical and clinical initiatives to establish individualized and precise procedures for integrating novel targeted therapies and advanced imaging techniques.
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