Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl
Preferences help
Polish version English version Language
enabled [disable] Abstract
Number of results

Results found: 5

Number of results on page
first rewind previous Page / 1 next fast forward last

Search results

Search:
in the keywords:  COLORECTAL CANCER
help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
1

Age at diagnosis of cancer as predictor of mutation occurrence in families suspected of HNPCC

100%
Kurzawski G., Debniak D. T., Debniak T., Kladny K. J., Kladny J., Lubinski L. J., Lubinski J.
Journal of Applied Genetics
|
2001
|
vol. 42
|
issue 3
359-366
EN
Analysis of significance of age at cancer diagnosis as a factor allowing identification of a subgroup of patients with a high frequency of hMSH2 and hMLH1 mutations among families that fulfil suspected HNPCC criteria was performed. DNA from thirty-one unrelated patients affected by colorectal cancer from families matching the above criteria were studied by direct sequencing for occurrence of hMSH2 and hMLH1 gene mutations. Seven unequivocal constitutional mutations were detected: five in the hMLH1 gene and two in the hMSH2 gene. Additionally, one hMLH1 alteration of unknown significance was found. All seven mutations were found in a subgroup of 19 patients with cancer diagnosed before the age of 50 years. In a subgroup of 12 patients with cancer diagnosed at an older age only one case with hMLH1 alteration of unknown significance was detected. Our results indicate that early age at cancer diagnosis seems to be a crucial pedigree factor in discrimination of patients with hMSH2 or hMLH1 mutations among families suspected of HNPCC and matching criteria I of ICG-HNPCC.
2

APC gene mutations causing familial adenomatous polyposis in Polish patients

80%
Plawski A., Slomski R.
Journal of Applied Genetics
|
2008
|
vol. 49
|
issue 4
407-414
EN
Familial adenomatous polyposis (FAP) is a well-known hereditary condition characterised by alimentary system tumours. Tens to thousands of polyps occur in the colon and rectum of the patients. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here the APC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families. Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families. Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP is a high heterogeneity of mutations in the APC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use of screening methods at the 5' end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics of FAP in Polish patients.
3

Role of Wnt signaling and APC protein in the etiology of colorectal cancer

80%
Cebrat M., Strzadala S. L., Strzadala L.
|
|
vol. 55
|
issue 4
513-524
EN
In this paper we present recent data on molecular function of APC protein and Wnt signaling pathway. Role of a link between APC and Wnt signaling in the etiology of colorectal cancer as well as significance of a mutant APC mice as a model of cancer in man are discussed.
4

Prognostic significance of p53 protein accumulation in cancer cells obtained from selected group of patients with sporadic colorectal cancer

80%
Paluszkiewicz P., Karski J., Berbe H., Pawlowska-Wakowicz B., Cybulski M., Karski M., Paszkowska A.
|
1999
|
vol. 40
|
issue 2
135-144
EN
p53 gene instability frequently causes accumulation of mutant protein in neoplastic cells. The goal of this study was to evaluate of p53 protein accumulation in tumour cells in relation to colorectal cancer outcome. p53 protein accumulation was tested immunohistochemically using DO-7 and Pab-1620 antibodies. In the group of 80 selected patients with sporadic colorectal cancer, p53 protein accumulation in tumour cells was found significantly more often (52.6% of cases) in cancers localised in the colon, nonmucinous and poorly differentiated. In 5-year follow-up, a shorter survival time was observed in the group of patients with p53 protein accumulation in cancer cells (P<0.05). The differences in p53 protein accumulation found in cancer cells in relation to tumour localisation and their histological type indicate the possibility of p53-independent carcinogenesis in mucinous and right-sided cancers. We indicate the importance of performing the immunohistochemical tests for prediction of the outcome of sporadic colorectal cancers.
5

Tumour markers in the diagnostics and monitoring of colorectal cancer

80%
Lawicki S., Mroczko B., Szmitkowski M.
|
|
issue 5
617-634
EN
Serum tumor markers: CEA, CA 19-9, AFP, TPS may be helpful in early diagnosis of colorectal cancer, in the initial assesment of the extent of the disease, and in monitoring of the tumor growth or tumor volume reduction once cancer has been diagnosed and treatment started. Recent studies have focused on a new substances (candidates for tumour markers) of colorectal cancer.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.