Association of MMP8 gene variation with an increased risk of malignant melanomaTadeusz 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- Direct-to-patient BRCA1 testing: the Twoj Styl experience
Jacek Gronwald
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Polabska 4, 70 115, Szczecin, Poland
Breast Cancer Res Treat 100:239-45. 2006
..We found this model of genetic testing and delivery of genetic information to be very efficient in a population in which founder mutations predominate. There is a need for similar studies in other populations...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
