A Jakubowska

Summary

Affiliation: University of Szczecin
Country: Poland

Publications

  1. pmc A low selenium level is associated with lung and laryngeal cancers
    Katrzyna Jaworska
    International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    PLoS ONE 8:e59051. 2013
  2. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  3. pmc Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Br J Cancer 106:2016-24. 2012
  4. ncbi Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 115, Poland
    Cancer Epidemiol Biomarkers Prev 12:457-9. 2003
  5. pmc CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland
    Anna Jakubowska
    International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Fam Cancer 9:605-8. 2010
  6. pmc The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers
    Anna Jakubowska
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Polabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 121:639-49. 2010
  7. ncbi A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Eur J Hum Genet 11:955-8. 2003
  8. ncbi Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?
    Anna Jakubowska
    International Hereditary Cancer Centre IHCC, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer 45:837-42. 2009
  9. pmc Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism
    Anna Jakubowska
    Pomeranian Medical University, Department of Genetics and Pathology, ul Polabska 4, 70 115 Szczecin, Poland
    BMC Cancer 8:90. 2008
  10. ncbi BARD1 and breast cancer in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 107:119-22. 2008

Detail Information

Publications74

  1. pmc A low selenium level is associated with lung and laryngeal cancers
    Katrzyna Jaworska
    International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    PLoS ONE 8:e59051. 2013
    ..We conducted a case-control study in Szczecin, a region of northwestern Poland, on 95 cases of lung cancer, 113 cases of laryngeal cancer and corresponding healthy controls...
  2. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  3. pmc Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Br J Cancer 106:2016-24. 2012
    ..Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity...
  4. ncbi Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 115, Poland
    Cancer Epidemiol Biomarkers Prev 12:457-9. 2003
    ..07-0.62; P = 0.0015). This finding suggests that RAD51 is a genetic modifier of breast cancer risk in BRCA1 carriers in the Polish population. It will be of interest to confirm this in other populations as well...
  5. pmc CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland
    Anna Jakubowska
    International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Fam Cancer 9:605-8. 2010
    ..CDH1 gene mutations are not present in Polish families with HDGC defined by the modified clinical criteria. Further studies of families with HDGC matching the restrictive criteria for HDGC are needed...
  6. pmc The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers
    Anna Jakubowska
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Polabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 121:639-49. 2010
    ..89-1.32). The polymorphism was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers. The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers...
  7. ncbi A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Eur J Hum Genet 11:955-8. 2003
    ..It is expected that the penetrance of BRCA2 mutations for stomach cancer will vary from country to country, reflecting local environmental and lifestyle factors...
  8. ncbi Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?
    Anna Jakubowska
    International Hereditary Cancer Centre IHCC, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer 45:837-42. 2009
    ..The PHB 1630 C/T single nucleotide polymorphism was associated with breast cancers with clinical features typical for BRCA1-positive tumours and is deserving of further study...
  9. pmc Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism
    Anna Jakubowska
    Pomeranian Medical University, Department of Genetics and Pathology, ul Polabska 4, 70 115 Szczecin, Poland
    BMC Cancer 8:90. 2008
    ..The C to T transition in the 3' untranslated region of the prohibitin (PHB) gene alters mRNA function and has recently been shown to be associated with hereditary breast cancer risk in Polish women harbouring BRCA1 mutations...
  10. ncbi BARD1 and breast cancer in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 107:119-22. 2008
    ..To investigate whether or not a genetic variant in BARD1 (Cys557Ser) contributes to early-onset breast cancer in Poland, or modifies the risk of breast cancer in women with an inherited predisposition to breast cancer...
  11. ncbi The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70 115 Szczecin, Poland
    Cancer Epidemiol Biomarkers Prev 16:270-5. 2007
    ..In conclusion, the RAD51 C allele seems to protect against both breast and ovarian cancer in women harboring BRCA1 mutations...
  12. pmc BRCA2 gene mutations in families with aggregations of breast and stomach cancers
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Sczcecin, Poland
    Br J Cancer 87:888-91. 2002
    ....
  13. pmc A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer
    C Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    J Med Genet 43:863-6. 2006
    ..Recently, a large deletion of exons 9 and 10 of CHEK2 was identified in several unrelated patients with breast cancer of Czech or Slovak origin. The geographical and ethnic extent of this founder allele has not yet been determined...
  14. ncbi Detection of germline mutations in the BRCA1 gene by RNA-based sequencing
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Polabska, Poland
    Hum Mutat 18:149-56. 2001
    ..The sensitivity of our analyses was sufficient to reliably detect mutations without the necessity of tissue culturing to obtain enough template cDNA for analysis...
  15. ncbi Breast cancer predisposing alleles in Poland
    B Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Polabska 4, Szczecin, Poland 70 115
    Breast Cancer Res Treat 92:19-24. 2005
    ..1) than for the missense mutation I157T (OR=1.4). This study suggests that cancer risks may be specific for particular alleles of a susceptibility gene and that these different risks should be taken into account by genetic counselors...
  16. ncbi Comparison of Alu-PCR, microsatelite instability, and immunohistochemical analyses in finding features characteristic for hereditary nonpolyposis colorectal cancer
    T Debniak
    Department of Genetics and Pathology, Pomeranian Medical University, Poland
    J Cancer Res Clin Oncol 127:565-9. 2001
    ....
  17. ncbi Common variants of DNA repair genes and malignant melanoma
    T Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer 44:110-4. 2008
    ..In conclusion, we report an increased melanoma risk among carriers of the N991D change of the BRCA2 and no association of the CHEK2 changes with malignant melanoma...
  18. doi Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations
    C Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, Szczecin, Poland
    J Med Genet 46:132-5. 2009
    ..However, it is of interest to estimate the breast cancer risks associated with carrying two mutations because this information may be informative for genetic counsellors and may provide clues to the carcinogenic process...
  19. doi Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention
    C Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Clin Genet 75:72-8. 2009
    ..01). Women with a CHEK2 mutation face a fourfold increase in the risk of ER-positive breast cancer and might be candidates for tamoxifen chemoprevention...
  20. ncbi Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)
    G Kurzawski
    International Hereditary Cancer Center Department of Genetics and Pathology, Universit of Szczecin and Pomeranian Medical University, Szczecin, Poland
    Clin Genet 69:40-7. 2006
    ....
  21. pmc An inherited NBN mutation is associated with poor prognosis prostate cancer
    C Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, Szczecin 70 115, Poland
    Br J Cancer 108:461-8. 2013
    ..To establish the contribution of eight founder alleles in three DNA damage repair genes (BRCA1, CHEK2 and NBS1) to prostate cancer in Poland, and to measure the impact of these variants on survival among patients...
  22. ncbi Clinical features of familial ovarian cancer lacking mutations in BRCA1 or BRCA2
    J Menkiszak
    Clinic of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland
    Eur J Gynaecol Oncol 25:99-100. 2004
    ..The purpose of the present study was to identify the clinical and pathologic features of ovarian cancers in patients who have a family history of breast or ovarian cancer but who do not have a mutation in the BRCA1 or BRCA2 gene...
  23. ncbi Fhit protein expression in hereditary and sporadic colorectal cancers
    P Hadaczek
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin
    Pol J Pathol 52:125-32. 2001
    ..Our results suggest that the FHIT gene plays an important role in carcinogenesis of at least one fourth of all colorectal cancers...
  24. ncbi Attitudes toward preventive oophorectomy among BRCA1 mutation carriers in Poland
    J Menkiszak
    Clinic of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland
    Eur J Gynaecol Oncol 25:93-5. 2004
    ..In conclusion, preventive oophorectomy is acceptable to most Polish women at high risk of hereditary ovarian cancer and should be among the range of services offered in cancer genetics clinics...
  25. ncbi Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin
    Tadeusz Debniak
    Department of Genetics, Pomeranian Academy of Medicine, Szczecin 70 111, Poland
    Melanoma Res 13:365-70. 2003
    ..It seems that the 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of MM patients, characterized by the occurrence of breast cancer among their relatives...
  26. ncbi Clinical characteristics of breast cancer in patients with an NBS1 mutation
    T Huzarski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, 70 115, Szczecin, Poland
    Breast Cancer Res Treat 141:471-6. 2013
    ..0-80.9 %). The presence of an NBS1 mutation is not associated with prognosis (HR = 1.21; 95 % 0.67-2.19). The survival of women with breast cancer and a NBS1 mutation is similar to that of patients without a NBS1 mutation. ..
  27. pmc Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States
    G Kurzawski
    Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    J Med Genet 39:E65. 2002
  28. ncbi Increased risk of breast cancer in relatives of malignant melanoma patients from families with strong cancer familial aggregation
    T Debniak
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
    Eur J Cancer Prev 12:241-5. 2003
    ..In conclusion, it seems to be justified to consider systematic breast surveillance beginning at the age around 35-40 years as an option in women from < or =55 MM/CFA families...
  29. ncbi The 3' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, ul Polabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 104:67-74. 2007
    ..Breast cancer risk did not differ between carriers of the 300 T > G and 5382insC mutation. Our results suggest that the PHB 3'UTR T allele increases the risk of breast cancer in patients who are already at increased risk of disease...
  30. pmc Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer
    B Gorski
    Department of Genetics and Pathology, Hereditary Cancer Center, 70 115 Szczecin, Poland
    Am J Hum Genet 66:1963-8. 2000
    ..In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities-5382insC, C61G, and 4153delA-accounted for 51%, 20%, and 11% of the identified mutations, respectively...
  31. ncbi Breast cancer susceptibility genes
    Jan Lubinski
    Pomeranian Medical University, Department of Genetics and Pathology, International Hereditary Cancer Center, Szczecin, Poland
    J BUON 12:S23-9. 2007
    ..We are presenting it on examples of late-onset breast cancers from Poland, but it seems to be justified to expect that similar results can be achieved from other malignancies...
  32. ncbi Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks
    Anna Jakubowska
    Pomeranian Medical University, ul Polabska 4, 70 111, Szczecin, Poland
    Breast Cancer Res Treat 104:299-308. 2007
    ..Together, it appears that functional polymorphisms in the MTHFR gene modify the risk of breast and may potentially alter the risk of ovarian cancer in women with an inherited predisposition...
  33. doi Survival from breast cancer in patients with CHEK2 mutations
    T Huzarski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Połabska 4 St, 70 115, Szczecin, Poland
    Breast Cancer Res Treat 144:397-403. 2014
    ..31 (95 % CI 0.97-1.77). The survival of women with breast cancer and a CHEK2 mutation is similar to that of patients without a CHEK2 mutation...
  34. pmc Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    C Cybulski
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    J Med Genet 39:E38. 2002
  35. pmc A personalised approach to prostate cancer screening based on genotyping of risk founder alleles
    C Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Br J Cancer 108:2601-9. 2013
    ..To evaluate whether genotyping for 18 prostate cancer founder variants is helpful in identifying high-risk individuals and for determining optimal screening regimens...
  36. doi The rs1447295 and DG8S737 markers on chromosome 8q24 and cancer risk in the Polish population
    Dominika Wokołorczyk
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Polabska 4, Szczecin 70 115, Poland
    Eur J Cancer Prev 19:167-71. 2010
    ..Although the carcinogenic mechanism associated with this particular locus of 8q24 is unclear it appears to be specific to prostate cancer...
  37. ncbi Epistatic relationship between the cancer susceptibility genes CHEK2 and p27
    Cezary Cybulski
    Pomeranian Medical University, Szczecin, Poland
    Cancer Epidemiol Biomarkers Prev 16:572-6. 2007
    ..Two-gene models provide numerous challenges for gene identification and cancer risk assessment...
  38. ncbi NBS1 is a prostate cancer susceptibility gene
    C Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Polabska 4, 70 115 Szczecin, Poland
    Cancer Res 64:1215-9. 2004
    ....
  39. doi BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms
    Anna Jakubowska
    Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 119:201-11. 2010
    ..Thus, it appears that these polymorphisms do not influence disease risk in Polish women carrying one of the three common BRCA1 founder mutations...
  40. ncbi Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype
    Janina Suchy
    Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Academy of Medicine, ul Polabska 4, Szczecin 70 115, Poland
    J Hum Genet 47:529-31. 2002
    ..Our results and reports by others indicate that, besides colorectal and endometrial cancer, the late-onset endometrioid type of ovarian cancer can be a feature of families with MSH6 germline mutations...
  41. ncbi Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Polabska, Poland
    Hum Mutat 17:52-60. 2001
    ..DNA sequencing using RNA as a basis for template construction may be a valuable and economical alternative to genomic DNA sequencing...
  42. ncbi CDKN2A-positive breast cancers in young women from Poland
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, Szczecin, Poland
    Breast Cancer Res Treat 103:355-9. 2007
    ..To investigate the contribution of CDKN2A A148T common variant to early-onset breast cancer in Poland, and to establish the characteristic features of these cancers...
  43. ncbi Hereditary ovarian cancer in Poland
    Janusz Menkiszak
    Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 106:942-5. 2003
    ..It is important that mutation surveys be conducted in other countries prior to the introduction of national genetic screening programs...
  44. ncbi Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations
    Janusz Menkiszak
    Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland
    J Appl Genet 45:255-63. 2004
    ..We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations...
  45. ncbi Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Hum Mutat 18:459. 2001
    ..Constitutional mutations were found in five out of eight patients. Three mutations were novel: g.IVS7+5G>A, g.156709T>A, and g.IVS21+1G>A (p.G203-E240del, p.Y659X, and p.I703-E737del)...
  46. doi Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Polabska 4, 70 115 Szczecin, Poland
    Eur J Cancer Prev 17:389-91. 2008
    ..The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma...
  47. ncbi CYP1B1 and predisposition to breast cancer in Poland
    Joanna Matyjasik
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 106:383-8. 2007
    ..The CYP1B1 gene is a polymorphic member of the P450 gene family and is considered to be a candidate gene for cancers of various types...
  48. ncbi A high proportion of founder BRCA1 mutations in Polish breast cancer families
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 110:683-6. 2004
    ..This rapid test will facilitate large-scale national epidemiologic and clinical studies of hereditary breast cancer, potentially including studies of chemoprevention...
  49. ncbi The NOD2 3020insC mutation and the risk of colorectal cancer
    Grzegorz Kurzawski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Szczecin, Poland
    Cancer Res 64:1604-6. 2004
    ..23; P = 0.0046). The results indicate that NOD2 may be a predisposing factor to colorectal cancer characterized by an older average age of disease onset in persons who do not harbor any other genetic predisposition to disease...
  50. doi CHEK2 mutations and HNPCC-related colorectal cancer
    Janina Suchy
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, il Połabska 4, Szczecin, Poland
    Int J Cancer 126:3005-9. 2010
    ..5; p < 0.0001). We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland...
  51. ncbi Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers
    Bohdan Gorski
    Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, Szczecin 70 115, Poland
    J Appl Genet 44:419-23. 2003
    ..Among 14 families without BRCA1 Polish founder mutations in this gene were excluded in 2 families and BRCA2 mutation was excluded in one family...
  52. ncbi Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization
    Jacek Gronwald
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Int J Cancer 114:230-6. 2005
    ..These findings need confirmation by more extensive studies because only a limited number of cases were analysed and there are relatively few reports published...
  53. pmc Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Hered Cancer Clin Pract 2:93-7. 2004
    ..We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families...
  54. ncbi Germline 657del5 mutation in the NBS1 gene in breast cancer patients
    Bohdan Gorski
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
    Int J Cancer 106:379-81. 2003
    ..It appears that the 657del5 mutation in exon 6 of the NBS1 gene is responsible for the occurrence of a small but significant proportion of familial breast cancer patients...
  55. pmc The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs
    Jan Lubinski
    Pomeranian Medical University, Szczecin, Poland
    Hered Cancer Clin Pract 3:59-63. 2005
    ..3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles...
  56. ncbi A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland
    Cezary Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 102:119-22. 2007
    ..This is one of the most common protein-truncating CHEK2 variants in Poland. Overall, 2% of all breast cancers in Poland can be attributed to one of three protein-truncating mutations in CHEK2...
  57. doi Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology
    Jan Lubinski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Polabska 4, 70 115, Szczecin, Poland
    Breast Cancer Res Treat 114:121-6. 2009
    ..Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67...
  58. doi Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Carcinogenesis 29:762-5. 2008
    ..g. p53 mutations) and have a high level of genotoxic DNA damage induced by tobacco smoke. We speculate that lung cancer cells with impaired CHEK2 function undergo increased rates of cell death...
  59. ncbi CHEK2-positive breast cancers in young Polish women
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Clin Cancer Res 12:4832-5. 2006
    ..To investigate the contribution of CHEK2 mutations to early-onset breast cancer in Poland and to establish the characteristic features of these cancers...
  60. ncbi BRCA1 mutations and prostate cancer in Poland
    Cezary Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Poland
    Eur J Cancer Prev 17:62-6. 2008
    ..1-11.3; P=0.045); in particular for familial prostate cancer (odds ratio=12; 95% confidence interval: 2.9-51; P=0.0004). We consider that the risk of prostate cancer in BRCA1 carriers varies with the position of the mutation...
  61. ncbi Pleomorphic adenoma of salivary glands does not appear to be a BRCA-1-dependent tumour in a Polish cohort
    Jakub Lubinski
    Department of Otolaryngology with Laryngological Oncology, Pomeranian Medical University, Szczecin, Poland
    Anticancer Res 28:3011-3. 2008
    ..The aim of the study was to examine whether pleomorphic adenoma of salivary glands can occur on the basis of constitutional BRCA-1 mutations...
  62. ncbi A range of cancers is associated with the rs6983267 marker on chromosome 8
    Dominika Wokolorczyk
    International Hereditary Cancer Center, Department of Genetics and Pathology and Clinic of Urology, Pomeranian Medical University, Szczecin, Poland
    Cancer Res 68:9982-6. 2008
    ..Our results suggest that the range of cancers associated with the rs6983267 marker might be larger than previously thought...
  63. ncbi DNA variation in MSR1, RNASEL and E-cadherin genes and prostate cancer in Poland
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Urol Int 79:44-9. 2007
    ..We investigated whether or not inherited variation in MSR1, RNASEL and E-cadherin contribute to prostate cancer risk in Poland...
  64. ncbi Molecular basis of inherited predispositions for tumors
    Jan Lubinski
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Acta Biochim Pol 49:571-81. 2002
    ....
  65. ncbi Fine needle aspiration biopsy and molecular analysis in differential diagnosis of lymphoproliferative diseases of the orbit and eye adnexa
    Ewa Wolska-Szmidt
    Department of Ophtalmology, Pomeranian Medical University, Szczecin
    Pol J Pathol 55:51-7. 2004
    ..Clonality studies by PCR may be performed in material obtained through FNAB. Clonality assessment by PCR technique is very useful in differential diagnosis of lymphoproliferative disordes...
  66. doi The VEGF_936_C>T 3'UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women
    Anna Jakubowska
    Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland
    Cancer Lett 262:71-6. 2008
    ..63, 95% CI, 0.48-0.83), and a potential effect on ovarian cancer risk (OR(adj) 0.62, 95% CI, 0.33-1.18; OR(clustered) 0.62, 95% CI, 0.47-0.83). Thus, the 936_C>T polymorphism appears to modify disease risks in BRCA1 carriers...
  67. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  68. ncbi [Characteristics of selected features of hereditary ovarian cancer in carriers of constitutional BRCA1 gene mutation]
    Janusz Menkiszak
    Ginekol Pol 73:1084-9. 2002
    ..Hereditary ovarian cancer in BRCA1 constitutional mutation carriers shows a characteristic clinical pattern...
  69. ncbi Clinical characteristics of hereditary ovarian cancer (HOC) in Poland
    Janusz Menkiszak
    Dept of Genetics and Pathology Pomeranian Medical Academy
    Ginekol Pol 73:733-9. 2002
    ..Hereditary ovarian cancer (HOC), as any genetic disease, may display clinical characteristics that depends on population...
  70. ncbi German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer
    Muhammad U Rashid
    Division of Molecular Genome Analysis, German Cancer Research Center, B055, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany
    Eur J Cancer 41:2896-903. 2005
    ..In patients with a high-risk profile however, CHEK2*1100delC was indicative for this risk and highest for early-onset breast cancer...
  71. pmc AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:1416-21. 2007
    ..In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers...
  72. pmc Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk
    Anna Jakubowska
    J Med Genet 44:408-11. 2007
    ..Thus, it appears that the ITGB3_Leu33Pro polymorphism may potentially increase the risk of ovarian cancer in Polish women with an inherited BRCA1 mutation...
  73. ncbi [Plant receptor kinases]
    Anna Jakubowska
    Zakład Biochemii, Instytut Biologii Ogólnej i Molekularnej, Uniwersytet Mikołaja Kopemika, ul Gagarina 9, 87 100 Torun
    Postepy Biochem 53:133-42. 2007
    ..Despite knowledge of RLKs functions is increasing rapidly, yet major challenges remain. These include identifying ligands that activate RLKs and characterizing downstream pathways...
  74. ncbi Lower airway papillomatosis in children
    Lidia Zawadzka-Głos
    Department of Paediatric Otorhinolaryngology, The Medical University of Warsaw, 24 Marszałkowska Str, 00 576 Warsaw, Poland
    Int J Pediatr Otorhinolaryngol 67:1117-21. 2003
    ..In differential diagnosis of these changes in the lungs we should take into consideration the presence of papilloma in the bronchi. A prognosis of papillomatosis in the lower airways in children is always serious...