Cezary Cybulski

Summary

Affiliation: University of Szczecin
Country: Poland

Publications

  1. 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
  2. pmc Exploring the link between germline and somatic genetic alterations in breast carcinogenesis
    Nuria Bonifaci
    Biomarkers and Susceptibility Unit, Spanish Biomedical Research Centre Network for Epidemiology and Public Health, Catalan Institute of Oncology, L Institut d Investigació Biomèdica de Bellvitge IDIBELL, L Hospitalet, Barcelona, Spain
    PLoS ONE 5:e14078. 2010
  3. 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
  4. 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
  5. 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
  6. 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
  7. ncbi Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?
    Cezary Cybulski
    Pomeranian Medical University, Szczecin, Poland
    Eur J Hum Genet 15:237-41. 2007
  8. 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
  9. 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
  10. 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

Detail Information

Publications74

  1. 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...
  2. pmc Exploring the link between germline and somatic genetic alterations in breast carcinogenesis
    Nuria Bonifaci
    Biomarkers and Susceptibility Unit, Spanish Biomedical Research Centre Network for Epidemiology and Public Health, Catalan Institute of Oncology, L Institut d Investigació Biomèdica de Bellvitge IDIBELL, L Hospitalet, Barcelona, Spain
    PLoS ONE 5:e14078. 2010
    ..Together, these data may lay the foundations for replication in additional populations and could potentially increase our knowledge of the underlying molecular mechanisms of breast carcinogenesis...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. ncbi Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?
    Cezary Cybulski
    Pomeranian Medical University, Szczecin, Poland
    Eur J Hum Genet 15:237-41. 2007
    ..It is important that other studies of CHEK2 mutation carriers be conducted to confirm this hypothesis...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. doi Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    J Clin Oncol 29:3747-52. 2011
    ..To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer...
  14. 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
    ....
  15. ncbi A novel founder CHEK2 mutation is associated with increased prostate cancer risk
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Cancer Res 64:2677-9. 2004
    ..Our results provide evidence that the two truncating mutations of CHEK2 confer a moderate risk of prostate cancer in Polish men and that the missense change appears to confer a modest risk...
  16. 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...
  17. 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...
  18. 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...
  19. doi BRCA1 mutations and colorectal cancer in Poland
    Janina Suchy
    Department of Genetics and Pathology, Pomeranian Medical University, International Hereditary Cancer Center, Szczecin, Poland
    Fam Cancer 9:541-4. 2010
    ..0 years vs. 64.0) and the difference was significant (P = 0.05). This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer...
  20. 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...
  21. ncbi 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...
  22. 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...
  23. ncbi CDKN2A common variant and multi-organ cancer risk--a population-based study
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 118:3180-2. 2006
    ..5; p = 0.5499). These results suggest that A148T variant may be associated with a multi-organ cancer risk in the Polish population...
  24. 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...
  25. 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...
  26. doi Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk
    Pablo Serrano-Fernandez
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 117:161-5. 2009
    ..03). These data suggest that the BRCA2 T1915M polymorphism alone might be associated with a reduced risk of breast cancer, but among CHEK2 mutation carriers, it may lead to an unexpectedly high risk...
  27. 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...
  28. 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...
  29. pmc Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
    Joanna Trubicka
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    BMC Cancer 10:420. 2010
    ..Because differences in the activity of the enzyme have been correlated with variant alleles of single nucleotide polymorphisms (SNPs), it represents an attractive candidate gene for studies into colorectal cancer susceptibility...
  30. ncbi Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene
    Bartłomiej Masojć
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 99:59-62. 2006
    ..Moreover, the G446A polymorphism is not significantly more frequent in CFA cases except for families in which the proband had melanoma. To confirm this result more cases of melanoma should be analysed...
  31. ncbi Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skin
    Tadeusz Debniak
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
    Melanoma Res 14:121-4. 2004
    ..To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined...
  32. ncbi MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 119:2597-602. 2006
    ..The risk of disease seems to be increased additively for patients harbouring also the CDKN2A common variant A148T...
  33. ncbi Pathology of breast cancer in women with constitutional CHEK2 mutations
    Tomasz Huzarski
    Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 90:187-9. 2005
    ..6; p > 0.0001). This is the first report to demonstrate that different mutations of the same gene may be associated with specific histologic subtypes of cancer...
  34. ncbi Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer
    Elzbieta Złowocka
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 122:583-6. 2008
    ..A CHEK2 mutation (all variants combined) was found in 10.6% of the cancer cases and in 5.9% of the controls (OR = 1.9; 95%CI 1.3-2.7; p = 0.0003). We conclude that CHEK2 mutations increase the risk of bladder cancer in the population...
  35. 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...
  36. 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...
  37. doi Early radiation exposures and BRCA1-associated breast cancer in young women from Poland
    Jacek Gronwald
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 112:581-4. 2008
    ..8 [95% confidence interval (CI) = 1.2-2.9; P = 0.01]. These observations support the hypothesis that early radiation exposure may be a risk factor for breast cancer in BRCA1 carriers...
  38. ncbi Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation
    Amy P M Finch
    Amy P M Finch, Barry Rosen, Andrea Eisen, Kelly A Metcalfe, Islay Thompson, Joan Murphy, Ping Sun, and Steven A Narod, University of Toronto Barry Rosen and Joan Murphy, Princess Margaret Hospital Amy P M Finch, Islay Thompson, Ping Sun, and Steven A Narod, Women s College Research Institute Andrea Eisen, Sunnybrook Odette Cancer Center, Toronto Peter Ainsworth, London Regional Cancer Program, London, Ontario Parviz Ghadirian, University of Montreal Hospital Centre William D Foulkes, McGill University, Montreal, Quebec Charmaine Kim Sing, British Columbia Cancer Agency, Vancouver, British Columbia, Canada Jan Lubinski, Cezary Cybulski, and Tomasz Huzarski, Pomeranian Medical University, Szczecin, Poland Pål Møller and Lovise Maehle, Norwegian Radium Hospital and Oslo University Hospital, Oslo, Norway Christian F Singer, Medical University of Vienna, Vienna
    J Clin Oncol 32:1547-53. 2014
    ....
  39. ncbi Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families
    Helena Rudnicka
    Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70 115, Szczecin, Poland
    Mol Biol Rep 40:6619-23. 2013
    ..No LGR was detected in BRCA2 genes. Overall, large rearrangements accounted for 3.7 % of all BRCA1 mutation positive families in our population and 1.5 % in high-risk families negative for Polish founder mutation. ..
  40. pmc Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk
    Janina Suchy
    International Hereditary Cancer Center Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    BMC Cancer 8:112. 2008
    ..This fact suggests that genetic variations in inflammatory response genes may act as CRC disease risk modifiers...
  41. doi The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland
    Wojciech Kluźniak
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Prostate 73:542-8. 2013
    ..The G84E mutation in the HOXB13 gene has been associated with a high lifetime risk of prostate cancer in North America (about 20-fold). The geographical and ethnic extent of this recurrent allele has not yet been determined...
  42. 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. ncbi Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland
    Jacek Gronwald
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 95:105-9. 2006
    ..BRCA1 carriers with late age of menarche, lower parity and long-term breast-feeding were less likely to develop breast cancer. Oral contraceptives protected against ovarian cancer...
  48. ncbi CDKN2A common variants and their association with melanoma risk: a population-based study
    Tadeusz Debniak
    Departments of Genetics and Pathology, International Hereditary Cancer Center and Dermatology and Venerology, Pomeranian Medical University, Połabska 4, 70 115 Szczecin, Poland
    Cancer Res 65:835-9. 2005
    ..Additional studies are required to confirm whether this particular change is associated with increased risk of other nonmelanoma malignancies...
  49. ncbi The risk of gastric cancer in carriers of CHEK2 mutations
    Urszula Teodorczyk
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    Fam Cancer 12:473-8. 2013
    ..4, p = 0.05). Truncating mutations of CHEK2 were associated with higher risk (OR = 2.1, p = 0.02) than the missense mutation I157T (OR = 1.4, p = 0.04). CHEK2 mutations predispose to gastric cancer, in particular to young-onset cases...
  50. doi Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanning
    Bartłomiej Masojć
    Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Hum Mutat 34:636-43. 2013
    ..5% to 6.2%, respectively. The technique presented in this article is a useful and cost-effective method for the detection of both germline and somatic mutations...
  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. pmc Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population
    Ewa Jaworowska
    Department of Otolaryngology and Laryngological Oncology, Pomeranian Medical University, Szczecin, Poland
    PLoS ONE 6:e25057. 2011
    ..This study supports previous findings on lung cancer but fails to show association of SNPs located in 15q25.1 and 5p15 region with other smoking related cancers like bladder and laryngeal cancer...
  53. doi Association of MMP8 gene variation with an increased risk of malignant melanoma
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    Melanoma Res 21:464-8. 2011
    ..We found no strong association between MMP1 variation and the risk of MM or breast cancer. The finding of this study indicates an influence of MMP8 gene variation on melanoma susceptibility...
  54. ncbi Common variants of xeroderma pigmentosum genes and prostate cancer risk
    Aneta Mirecka
    Department of Genetics and Pathology, Pomeranian Medical University, Poland Electronic address
    Gene 546:156-61. 2014
    ..Polymorphism in XPD gene appears to be associated with the risk of prostate cancer. ..
  55. pmc Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer
    Christopher A Maxwell
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute IDIBELL, L Hospitalet, Catalonia, Spain
    PLoS Biol 9:e1001199. 2011
    ....
  56. doi The presence of prostate cancer at biopsy is predicted by a number of genetic variants
    Aniruddh Kashyap
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 134:1139-46. 2014
    ..In conclusion, our data do not support the routine use of SNP polymorphisms as an adjunct test to be used on the context of prostate biopsy for Polish men with an abnormal screening test...
  57. pmc The risk of breast cancer in women with a BRCA1 mutation from North America and Poland
    Jan Lubinski
    International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 131:229-34. 2012
    ..The reasons for the difference are unknown, but this observation suggests that environmental factors or genetic modifiers are important in determining risk...
  58. ncbi Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 110:558-62. 2004
    ..The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA...
  59. 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...
  60. ncbi Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study
    Tomasz Gromowski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland Electronic address
    Cancer Genet 207:128-32. 2014
    ..82), and one carrier among kidney cancer patients (P = 0.64). Our study demonstrates a lack of strong association of E318K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon. ..
  61. 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...
  62. 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
    ....
  63. doi Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer
    Pawel Domagala
    Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 132:937-45. 2012
    ..This association represents independent evidence supporting the biological significance of immunophenotypic molecular classification of BC...
  64. 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...
  65. ncbi Antigens HLA-G, sHLA- G and sHLA- class I in reproductive failure
    Olimpia Sipak-Szmigiel
    Chair for Obstetrics and Gynecology, Department for Feto Maternal Medicine, Pomeranian Medical University in Szczecin, Szczecin, Poland
    Folia Histochem Cytobiol 45:S137-41. 2007
    ..05). To conclude, sHLA-G molecules is associated to certain HLA-G alleles and imply that sHLA-G levels are under genetic control. Low concentration sHLA-G seems to be prognostically important in IVF failure...
  66. pmc Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin
    Cezary Cybulski
    Katedra Patologii, Pomorska Akademia Medyczna, Szczecin
    Hered Cancer Clin Pract 5:164-79. 2007
    ..We provide evidence that CHEK2 is a multi-organ cancer susceptibility gene. We show that inherited variation in RNASEL and MSR1 genes do not contribute to prostate cancer development in Poland...
  67. ncbi KRAS mutation testing in colorectal cancer as an example of the pathologist's role in personalized targeted therapy: a practical approach
    Paweł Domagała
    Department of Pathology, Pomeranian Medical University, Szczecin, Poland
    Pol J Pathol 63:145-64. 2012
    ....
  68. ncbi Retinal function in the von Hippel-Lindau disease
    Wojciech Lubinski
    Clinic of Ophthalmology, Pomeranian Academy of Medicine, Szczecin, Poland
    Doc Ophthalmol 106:271-80. 2003
    ..To assess the retinal function in patients with von Hippel-Lindau disease (VHL)...
  69. ncbi NOD2 variants and the risk of malignant melanoma
    T Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer Prev 14:143-6. 2005
    ..In conclusion, the three common NOD2 mutations are not associated with increased risk of development of malignant melanoma...
  70. 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...
  71. pmc Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling
    Jacek Gronwald
    J Med Genet 44:e76. 2007
  72. ncbi CHEK2 mutation and hereditary breast cancer
    Natalia Bogdanova
    J Clin Oncol 25:e26. 2007
  73. ncbi Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma
    Sanna K Ylisaukko-oja
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 14:880-3. 2006
    ..One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC...