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    Wyświetlanie 1-8 z 8
    Tytuł:
    Organizational forms and methods of early diagnosis of hereditary tumors
    Autorzy:
    Kuzniatsou, A.
    Shpakou, A.
    Powiązania:
    https://bibliotekanauki.pl/articles/2088006.pdf
    Data publikacji:
    2020
    Wydawca:
    Uniwersytet Opolski. Instytut Nauk o Zdrowiu
    Tematy:
    oncology
    hereditary cancer
    clinical risk
    screening
    risk
    mutation
    breast cancer
    ovary cancer
    colon cancer
    Opis:
    Background: With the development of genetic research in oncology, it has become possible to track and identify early and preclinical forms of hereditary oncological diseases, which allows timely and effective preventive and therapeutic measures in relation to relatives at risk. Aim of the study: Assessment of genetically determined neoplasms in the region and the development of organizational forms and methods for early diagnosis. Material and methods: 10,727 residents of the Belarus-Poland border region were examined. Clinical and medical history data of 2,054 patients with tumors of the breast (1406), ovaries (239), and colon (409) were analyzed. As a result of the questionnaire, three main observation groups were formed: “high risk of hereditary cancer”, “hereditary cancer suspected”, and “no risk of hereditary cancer”. Results: Register and hospital screenings were the most informative types of screening. Of the 149 HBC patients who underwent molecular genetic testing, BRCA1 gene mutations were found in 5.37%, 5382insC in all cases. Seven mutations were detected in 77 individuals with a diagnosis of HOC and in 6 cases 5382insC and in 2 – 4145delA. Signs of hereditary ovarian cancer and suspicion of it were found in 1.12%, including people who were found to have a high risk of hereditary ovarian cancer. By their effectiveness, register and hospital screenings significantly exceeded the population, p<0.01. 1.67% of women suffering from this disease met the high clinical risk criteria for hereditary ovarian cancer. A high clinical risk of hereditary tumor genesis was established in 0.73% of cases among patients with a diagnosis of colon cancer. Conclusions: The results of assessing the clinical risk of hereditary cancer according to population screening indicates that approximately 1.2% of the population has an increased clinical risk of developing hereditary breast, ovarian, and colon cancer.
    Źródło:
    Medical Science Pulse; 2020, 14, 1; 15-20
    2544-1558
    2544-1620
    Pojawia się w:
    Medical Science Pulse
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    RT-PCR Analysis of TopBP1 Gene Expression in Hereditary Breast Cancer
    Autorzy:
    Forma, Ewa
    Bernaciak, Magdalena
    Romanowicz-Makowska, Hanna
    Bryś, Magdalena
    Powiązania:
    https://bibliotekanauki.pl/articles/764886.pdf
    Data publikacji:
    2010
    Wydawca:
    Uniwersytet Łódzki. Wydawnictwo Uniwersytetu Łódzkiego
    Tematy:
    TopBP1
    gene expression
    RT-PCR
    hereditary breast cancer
    Opis:
    Hereditary predisposition to breast cancer determined in large part by loss of function mutations in one of two genes BRCA1 and BRCA2. Besides BRCA1 and BRCA2 other genes are also likely to be involved in hereditary predisposition to breast cancer. TopBP1 protein is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. Expression of TopBP1 gene at the mRNA level was analyzed by semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) in 94 samples of hereditary breast cancer. Analysis of TopBP1 mRNA level showed that expression of TopBP1 is significantly downregulated in poorly differentiated breast cancer (grade III according Bloom-Richardson system (P<0.05).
    Źródło:
    Acta Universitatis Lodziensis. Folia Biologica et Oecologica; 2010, 6; 49-59
    1730-2366
    2083-8484
    Pojawia się w:
    Acta Universitatis Lodziensis. Folia Biologica et Oecologica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Dziedziczny rak jajnika – opis przypadku
    Hereditary ovarian cancer – case report
    Autorzy:
    Gmyrek, Leszek Jarosław
    Nowakowska, Dorota
    Powiązania:
    https://bibliotekanauki.pl/articles/908428.pdf
    Data publikacji:
    2007
    Wydawca:
    Medical Communications
    Tematy:
    BRCA1
    BRCA2
    diagnosis
    hereditary ovarian cancer
    prophylaxis
    therapy
    Opis:
    Hereditary causative factors are present in about 10% of ovarian cancer cases, mainly BRCA1 and BRCA2 mutations. Mean age of women developing hereditary ovarian cancer is about 10 years lower (42-45 years) than that of women with sporadic ovarian cancer (54 years). In both groups prognosis is similar. Most common histological type is serous adenocarcinoma. The paper presents a case of a 44-year-old woman, in the care of genetic outpatient clinic because of BRCA1 mutation. For the first time, the patient presented at the Centre of Oncology in Warsaw, Poland, in 2002, with results of biopsy of a breast lesion. Due to a positive family history, the patient entered of the Program of supervision of families burdened by high, genetically determined risk of malignant tumours, conducted by the Genetic Outpatient Clinic of the Institute. The patient was subjected to a regular follow-up at 6-months’ intervals. Five years after her first visit, in October 2007, transvaginal sonography revealed a small cystic lesion with endophytic excrescences in the left ovary, 3 cm in diameter, with concomitant increase of the Ca 125 level. Control study in December 2007 confirmed the presence of a cystic-solid tumour of the left ovary. The patient was qualified for surgical treatment. Surgery consisted in hysterectomy, adnexectomy, omentectomy, retroperitoneal lymphadenectomy and peritoneal biopsy. Microscopic studies of surgical specimens revealed urothelial adenocarcinoma G3. The patient was referred for paclitaxel- and carboplatin-based chemotherapy.
    Około 10% przypadków raka jajnika związanych jest z czynnikami dziedzicznymi, głównie z mutacjami BRCA1 i BRCA2. Średnia wieku kobiet, u których wystąpił dziedziczny rak jajnika, jest mniej więcej o 10 lat niższa (42-45 lat) niż u kobiet z grupy, w której stwierdzono sporadycznego raka jajnika (54 lata). Rokowanie w obu grupach jest podobne. Najczęściej spotykanym typem histopatologicznym jest rak gruczołowy surowiczy. W niniejszej pracy przedstawiono przypadek 44-letniej kobiety będącej pod opieką poradni genetycznej z powodu stwierdzonej mutacji genu BRCA1. Pacjentka zgłosiła się po raz pierwszy do Centrum Onkologii - Instytutu w Warszawie w 2002 roku z wynikiem biopsji ze zmiany w piersi. Ze względu na obciążony wywiad rodzinny pacjentka została zakwalifikowana do Programu opieki nad rodzinami wysokiego, dziedzicznie uwarunkowanego ryzyka zachorowania na nowotwory złośliwe, realizowanego przez Poradnię Genetyczną w CO-I w Warszawie. Pacjentka została poddana regularnym badaniom, które odbywały się co 6 miesięcy. Po 5 latach od pierwszego badania, w październiku 2007 roku, w badaniu USG TV stwierdzono niewielką, trzycentymetrową torbielowatą zmianę z endofitycznymi wypustkami w prawym jajniku oraz jednoczesny wzrost poziomu Ca 125. Kontrolne badanie USG TV przeprowadzone w grudniu 2007 roku potwierdziło obecność podejrzanego tor-bielowato-litego guza prawego jajnika. Wobec podejrzenia raka jajnika pacjentka została zakwalifikowana do leczenia operacyjnego. Wykonano wycięcie macicy z przydatkami, sieci większej i węzłów chłonnych za-otrzewnowych oraz biopsję otrzewnej. Wynik materiału pooperacyjnego: rak gruczołowy urotelialny G3. Pacjentka została zakwalifikowana do chemioterapii uzupełniającej z zastosowaniem paklitakselu i karboplatyny.
    Źródło:
    Ginekologia Onkologiczna; 2007, 5, 4; 236-242
    1731-5379
    Pojawia się w:
    Ginekologia Onkologiczna
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Incidence of hereditary non-polyposis colorectal cancer [HNPCC] in the city of Szczecin, north-western Poland
    Autorzy:
    Kladny, J
    Lubinski, J
    Powiązania:
    https://bibliotekanauki.pl/articles/2046601.pdf
    Data publikacji:
    1997
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    incidence
    Polska
    Szczecin city
    hereditary non-polyposis colorectal cancer
    colorectal cancer
    Opis:
    The study population consisted of 140 consecutive colorectal cancer patients, inhabitants of the city of Szczecin, north-west Poland, who were histopathologically diagnosed in the period of 2 years - 1991-1992. Family history was obtained in 124 (88.6%) of patients. A definitive diagnosis of HNPCC was established if requirements of the International Collaborative Group on HNPCC (ICG- HNPCC) were met. Suspected HNPCC were recognised according to criteria described by Ponz de Leon or Mecklin or Kunitomo. HNPCC as defined by International Collaborative Group on HNPCC was identified in 2 (1.6%) families. Suspected HNPCC were recognised in 16.9%, 3.2% and 4.0% of patients if Ponz de Leon or Mecklin or Kunitomo criteria were applied, respectively. In our series in 19 of 124 cases, colorectal carcinomas were diagnosed in patients under 50 years of age. Only in one of these cases, features characteristic of HNPCC other than young age were found which suggests that in our region the frequency of somatic or germ line de novo mutations in genes predisposing to colorectal cancer may be high. Our results suggest that the frequency of HNPCC inherited from ancestors in Poland and other countries is approximately similar and this syndrome is common disease everywhere.
    Źródło:
    Journal of Applied Genetics; 1997, 38, 1; 103-114
    1234-1983
    Pojawia się w:
    Journal of Applied Genetics
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Increased constitutional chromosome sensitivity to bleomycin in patients with hereditary non-polyposis colorectal cancer [HNPCC]
    Autorzy:
    Kladny, J
    Zajaczek, S
    Lubinski, J
    Powiązania:
    https://bibliotekanauki.pl/articles/2047245.pdf
    Data publikacji:
    1996
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    chromosome sensitivity
    lymphocyte
    hereditary non-polyposis colorectal cancer
    tumour
    colorectal cancer
    bleomycin
    genotoxic effect
    Opis:
    It has been suggested that mutagen sensitivity is a constitutional factor which may be useful in identification of patients with an increased risk for the development of tumors. In this study, the chromosome sensitivity to bleomycin was measured according to Hsu in patients with hereditary non-polyposis colorectal cancer (HNPCC), sporadic colorectal cancer and in control persons with no tumor history in family. In vitro lymphocytes were exposed to bleomycin according to Hsu and chromosomal damage was quantified by scoring breaks of 100 cells. A significant difference (P < 0.01) in the mean number of breaks per cell (b/c) was found between HNPCC patients (0.59 ± 0.14; n = 12; mean age 55.4 yrs) and control individuals (0.35 ± 0.13: n = 12; mean age 55.8 yrs). In contrast, patients with sporadic colorectal cancer showed a mean b/c value of 0.43 ± 0.14 (n = 14; mean age 63.4 yrs) which was not significantly higher than that in control individuals for this group (0.42 ± 0.15; n = 14; mean age 63.1 yrs). Selenium protected lymphocytes of HNPCC patients against bleomycin activity in vitro.
    Źródło:
    Journal of Applied Genetics; 1996, 37, 4; 385-392
    1234-1983
    Pojawia się w:
    Journal of Applied Genetics
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Bacterial DNA repair genes and their eukaryotic homologues: 2. Role of bacterial mutator gene homologues in human disease. Overview of nucleotide pool sanitization and mismatch repair systems
    Autorzy:
    Arczewska, Katarzyna
    Kuśmierek, Jarosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1040920.pdf
    Data publikacji:
    2007
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    MutT protein
    human MutT homologue
    DNA damage
    mismatch repair
    hereditary non-polyposis colorectal cancer
    DNA repair
    Opis:
    Since the discovery of the first E. coli mutator gene, mutT, most of the mutations inducing elevated spontaneous mutation rates could be clearly attributed to defects in DNA repair. MutT turned out to be a pyrophosphohydrolase hydrolyzing 8-oxodGTP, thus preventing its incorporation into DNA and suppresing the occurrence of spontaneous AT→CG transversions. Most of the bacterial mutator genes appeared to be evolutionarily conserved, and scientists were continuously searching for contribution of DNA repair deficiency in human diseases, especially carcinogenesis. Yet a human MutT homologue - hMTH1 protein - was found to be overexpressed rather than inactivated in many human diseases, including cancer. The interest in DNA repair contribution to human diseases exploded with the observation that germline mutations in mismatch repair (MMR) genes predispose to hereditary non-polyposis colorectal cancer (HNPCC). Despite our continuously growing knowledge about DNA repair we still do not fully understand how the mutator phenotype contributes to specific forms of human diseases.
    Źródło:
    Acta Biochimica Polonica; 2007, 54, 3; 435-457
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Hereditary mixed polyposis syndrome –- own experience
    Autorzy:
    Kamocki, Zbigniew
    Piłaszewicz, Agata
    Zaręba, Konrad
    Powiązania:
    https://bibliotekanauki.pl/articles/1394430.pdf
    Data publikacji:
    2012
    Wydawca:
    Index Copernicus International
    Tematy:
    hereditary mixed polyposis syndrome
    HMPS
    colorectal cancer
    surgical treatment
    Opis:
    Hereditary mixed polyposis syndrome (HMPS) is a rare condition of unknown genetic origin. The paper presents 25-year clinical follow up in a female patient with multiple gastrointestinal tract polyps of varied histology. They most likely served as sites of multiple colorectal cancers development. The clinical course is interesting in terms of diagnostics and therapy. The patient required extended genetic testing, intensive conservative treatment and numerous surgical procedures. This is the first case of HMPS presented in Polish publications.
    Źródło:
    Polish Journal of Surgery; 2012, 84, 5; 262-266
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.
    Autorzy:
    Grzybowska, Ewa
    Siemińska, Marzena
    Zientek, Helena
    Kalinowska, Ewa
    Michalska, Jadwiga
    Utracka-Hutka, Beata
    Rogozińska-Szczepka, Jadwiga
    Kaźmierczak-Maciejewska, Maria
    Powiązania:
    https://bibliotekanauki.pl/articles/1043761.pdf
    Data publikacji:
    2002
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    germline mutations
    allele-specific amplification PCR
    hereditary predisposition
    BRCA1 and BRCA2 genes
    ovary cancer
    breast cancer
    Opis:
    Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations: 5382insC, 185delAG and C61G in BRCA1 were found. Two families carried the 185delAG mutation and additional two C61G in BRCA1. Nobody carried the mutation 4153delA in BRCA1 nor 6174delT or 9631delC in BRCA2. Most of the carriers of a germline mutation were observed among the patients who developed bilateral breast cancer (17%). The lowest frequency of the germline mutations was found in the healthy persons who had two or more relatives affected with breast or ovarian cancer.
    Źródło:
    Acta Biochimica Polonica; 2002, 49, 2; 351-356
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-8 z 8

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