Characteristics of hereditary ovarian cancer

Ovarian cancer is the fifth major cause of cancer-related mortality among women. In Wielkopolska, higher incidence and mortality rates are observed compared to other regions of Poland. Ovarian cancer affects mainly women in their sixties and seventies. The etiology of this disease has not been fully understood yet. The factors contributing to increased risk of ovarian cancer occurrence include infertility, breast cancer diagnosed before the age of 45 and family history of ovarian cancer while childbearing and oral contraceptives are considered to be protective factors.Simultaneous genetic and epidemiological studies based on analyzing pedigrees of families with multiple cases of ovarian cancer and indicate a role of the genetic factor in ovarian cancer etiology. Familial forms of ovarian cancer which represent approximately 5–10% of all cases are associated with certain syndromes, including: familial breast and ovarian cancer syndrome related to mutations in BRCA1, familial breast cancer syndrome related to mutations in BRCA2 which can be accompanied by ovarian cancer, Lynch II syndrome characterized by the occurrence of ovarian cancer, colon cancer and endometrial cancer in the family as well as the syndrome of hereditary non-polypous colon cancer (HNPCC). Genetic ovarian cancer is most often diagnosed before the age of fifty.Identification of individuals with a high risk of genetic predisposition to developing ovarian cancer should be based on precise information collected during interviews with family members complemented by the data on personal risk factors. Women identified as members of high-risk groups can be offered genetic testing aimed at detecting asymptomatic carriers of mutations in genes predisposing to ovarian cancer.On the one hand, genetic tests represent a new, extremely powerful instrument for identifying individuals genetically predisposed to ovarian cancer, on the other hand, however, they create numerous problems. The two basic controversies which need clarifying are: who should be offered genetic testing and what preventive measures can be taken to help women carrying gene mutations increasing the risk of developing cancer, including ovarian cancer. Most issues related to genetic types of cancer (including ovarian) require further investigation and studies and currently proposed protocols are still widely discussed

The role of p53 gene in lung cancer with special emphasis on hereditary types

Lung cancer is the most common type of cancer affecting men and the fifth most frequent female cancer. The survival rate related to lung cancer is low, with the 5-year survival amounting to 10–13% in highly advanced countries. In Poland lung cancer survival does not exceed 5%.The major causes of lung cancer incidence include tobacco smoking, environmental factors and genetic predisposition. The most frequent genetic modifications observed in lung cancer cells are mutations in the myc, ras and/or erb1 genes.The p53 gene has been located on the short arm of chromosome 17 and has been found to consist of 11 exons with the first one being non-coding. The analysis of its sequence in different species resulted in identifying five highly conservative regions, including exons 1, 4, 5, 7 and 8. The p53 has been classified as a suppresser gene.The p53 protein is a nuclear phosphoprotein composed of 393 amino-acids. This protein is active in the two most important stages of the cellular cycle: during the transition between phases G1 and S and between phases G2 and M. The function of p53 can be described as ensuring the integrity of the genome by preventing replication of the damaged DNA and cell division. When the repair process fails, p53 triggers the apoptosis of cells. In addition to the regulatory function, p53 acts also as a transcription agent.Mutations in p53 are responsible for 60% of cases of human lung cancer. The mutations are most often found in microcellular lung cancer (70%) and are less frequent in the cases of adenoid lung cancer (33%). The most common mutations related to lung cancers include: transversions of the G:C/A:T type, missense mutations, nonsense mutations and deletions. These mutations occur in as many as 100 various locations but the most characteristic ones for lung cancer are found in codon 157, 248 and 273. The hereditary mutations in p53 are associated with the Li-Fraumeni syndrome. This syndrome indicates a higher risk of developing different forms of cancer, including lung cancer. Genetic testing aimed at identifying the carriers of p53 mutations should be limited only to high-risk groups defined on the basis of a diagnostic pattern proposed by Lynch. In the families with one member affected by lung cancer the risk of developing lung cancer by first-degree relatives is four times higher compared to general population risk

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

Peer reviewe

Expression of estrogen receptor beta in the breast carcinoma of BRCA1 mutation carriers

<p>Abstract</p> <p>Background</p> <p>Breast cancers (BC) in women carrying mutations in BRCA1 gene are more frequently estrogen receptor negative than the nonhereditary BC. Nevertheless, tamoxifen has been found to have a protective effect in preventing contralateral tumors in BRCA1 mutation carriers. The identification of the second human estrogen receptor, ERβ, raised a question of its role in hereditary breast cancer. The aim of this study was to assess the frequency of ERα, ERβ, PgR (progesterone receptor) and HER-2 expression in breast cancer patients with mutated <it>BRCA1 </it>gene and in the control group.</p> <p>Methods</p> <p>The study group consisted of 48 women with <it>BRCA1 </it>gene mutations confirmed by multiplex PCR assay. The patients were tested for three most common mutations of BRCA1 affecting the Polish population (5382insC, C61G, 4153delA). Immunostaining for ERα, ERβ and PgR (progesterone receptor) was performed using monoclonal antibodies against ERα, PgR (DakoCytomation), and polyclonal antibody against ERβ (Chemicon). The EnVision detection system was applied. The study population comprised a control group of 120 BC operated successively during the years 1998–99.</p> <p>Results</p> <p>The results of our investigation showed that <it>BRCA1 </it>mutation carriers were more likely to have ERα-negative breast cancer than those in the control group. Only 14.5% of <it>BRCA1</it>-related cancers were ERα-positive compared with 57.5% in the control group (<it>P </it>< 0.0001). On the contrary, the expression of ERβ protein was observed in 42% of <it>BRCA1</it>-related tumors and in 55% of the control group. An interesting finding was that most hereditary cancers (75% of the whole group) were triple-negative: ERα(-)/PgR(-)/HER-2(-) but almost half of this group (44.4%) showed the expression of ERβ.</p> <p>Conclusion</p> <p>In the case of <it>BRCA1</it>-associated tumors the expression of ERβ was significantly higher than the expression of ERα. This may explain the effectiveness of tamoxifen in preventing contralateral breast cancer development in <it>BRCA1 </it>mutation carriers.</p

Offset szansą dla rozwoju i transferu technologii do przemysłu w Polsce

W artykule przedstawiono podstawy formalne zawierania umów kompensacyjnych - offsetowych. Zaprezentowano efekty gospodarcze związane z realizacją umów offsetowych w Polsce. Dokonano oceny stanu realizacji umów offsetowych

Estimation of influence of building and materials industry on the natural environment from 'Sustainable development' point of view

Polityka i strategia rozwoju gospodarczego i społecznego, realizowanego bez szkody dla jakości środowiska i zasobów naturalnych, dotyczy również budownictwa. Cykl życia technicznego obiektu budowlanego, z uwzględnieniem kosztów środowiskowych poniesionych w procesie inwestycyjnym i eksploatacyjnym, powinien być przedmiotem oceny ekologicznej. Propozycja tego typu oceny została opracowana przez Komitet ISO/TC207 w serii norm ISO 14000

Inwestycje NATO w Polsce realizowane w ramach programu NSIP

Celem artykułu jest przedstawienie inwestycji realizowanych przez NATO w gospodarce polskiej w związku z realizacją programu NSIP. Autorzy w swoich rozważaniach przedstawiają inwestycje już zrealizowane oraz te, których realizacja aktualnie następuje, bądź jest zamierzona na kolejne lata. W artykule wykorzystano dane dotyczące programu NSIP uzyskane z Ministerstwa Obrony Narodowej oraz publikowane na stronie internetowej NATO

Capability package - pakiety inwestycyjne realizowane w ramach programu NATO Security Investment Programme w Polsce

W artykule przedstawiono istotę, fazy i etapy przygotowań pakietów inwestycyjnych zatwierdzonych przez Komitet Infrastruktury NATO do realizacji w Polsce. Opracowanie obejmuje wartość i szczegółowe zakresy prac związanych z rozbudową, modernizacją i remontami infrastruktury wojskowej w Polsce ze środków NATO w ramach programu NSIP. W opracowaniu przedstawiono 7 pakietów inwestycyjnych, są to pakiety: CP 2A0022, CP 5A0035, CP 5A0044, CP 9B0401, CP 5A0109, CP 9B3012/5A0006 oraz CP 5A0039

Bezpośrednie inwestycje zagraniczne w Polsce w 2006 roku

Autorzy artykułu przedstawiają miejsce i znaczenie bezpośrednich inwestycji zagranicznych w gospodarce polskiej oraz proponują usystematyzowanie pojęć z zakresu inwestycji oraz inwestycji zagranicznych ze szczególnym uwzględnieniem inwestycji bezpośrednich