RESUMO
It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. Family members suffered almost exclusively from colorectal cancer; however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
Assuntos
Sequência de Bases , Neoplasias Colorretais Hereditárias sem Polipose/genética , Molécula de Adesão da Célula Epitelial/genética , Proteína 2 Homóloga a MutS/genética , Neoplasias Pancreáticas/genética , Deleção de Sequência , Neoplasias Gástricas/genética , Adulto , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Feminino , Efeito Fundador , Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patologia , Linhagem , Mutação Puntual , Polônia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologiaRESUMO
OBJECTIVE: Due to the growing aging of societies an increasingly large group of people suffers from age-related impairment of cognitive functions and thus reducing the quality of life of the elderly. The purpose of the study was to evaluate the efficiency of cognitive functions in a group of aging residents of rural areas. PATIENTS AND METHODS: The inhabitants of a rural area were recruited and assessed: cognitive function as well as intellectual and physical activity, number of years of education, presence of diseases, using stimulants, diet, sources of living, marital status and family situation Subjects were divided into two groups: persons above 65 and older, constituting the studied group and persons between 40 and 64 years of age, constituting the control group. Both groups did not significantly differ in terms of sex or years of education. RESULTS: Statistically significant differences (p < 0.05) were found in the results of the tests concerning such functions as the sight recognition memory and spatial recognition memory, spatial operating memory both on the strategy level and on the level of committed errors. An analysis of the results obtained in the group of elderly people did not indicate any major differences between men and women as regards the analyzed cognitive functions, no statistically significant differences were found in cognitive testing depending on the number of years of education. The studied persons included in the physically active group scored better in the visual memory and learning tests. CONCLUSIONS: The conducted studies elucidated the dependence of the level of cognitive functions on age, a positive impact of physical activity on some cognitive functions, however we could not find differences between the efficiency of those functions and education, sex, presence of somatic diseases and activity of persons aged > 65.