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  • 11
    Keywords: RECEPTOR ; CANCER ; EXPRESSION ; tumor ; CELL ; Germany ; THERAPY ; DISEASE ; HISTORY ; RISK ; GENE ; GENES ; COMPLEX ; COMPLEXES ; MECHANISM ; FAMILY ; mechanisms ; ASSOCIATION ; POLYMORPHISMS ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; hormone ; NUMBER ; STRESS ; ovarian cancer ; OVARIAN-CANCER ; smoking ; ORAL-CONTRACEPTIVES ; OXIDATIVE STRESS ; body mass index ; glutathione-S-transferase ; PHASE-II ; ONCOLOGY ; ASSOCIATIONS ; LIGHT ; PHASE ; GENOTYPE ; FAMILY-HISTORY ; GLUTATHIONE S-TRANSFERASES ; BODY-MASS ; breast cancer risk ; COLLECTION ; hormone therapy ; Metabolizing enzymes ; METABOLIZING GENES ; GSTs
    Abstract: Breast cancer is a complex disease and in recent years a number of breast cancer susceptibility genes have been identified, but the role of low penetrance susceptibility genes has not been completely resolved. Glutathione S-transferases (GSTs) are phase II xenobiotic metabolizing enzymes involved in the detoxification of chemical carcinogens and environmental pollutants and play an important role in cell defense mechanisms against oxidative stress. They have been in the spot light for the investigation of a potential association with breast cancer risk but so far, sparse or even no data for a potential contribution of GSTA2, GSTM2, GSTO, and GSTZ to breast cancer risk are available. We genotyped GSTA2_448_C 〉 G (rs2180314), GSTA2_742_A 〉 C (rs6577), GSTM2_-832_T 〉 C (rs638820), GSTO1_-1242_G 〉 A (rs2164624), GSTO1_419_A 〉 C (rs4925), GSTO2_-183_A 〉 G (rs2297 235), GSTO2_342_A 〉 G (rs156697), GSTZ1_-4378_A 〉 G (rs1046428), and GSTZ1_94_G 〉 A (rs3177427) by MAL DI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status. We did not observe any breast cancer risk associations and conclude that it is unlikely that glutathione S-transferases GSTA2, GSTM2, GSTO1, GSTO2, and GSTZ1 participate in breast cancer susceptibility
    Type of Publication: Journal article published
    PubMed ID: 19859803
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  • 12
    Keywords: RECEPTOR ; APOPTOSIS ; CANCER ; KINASE ; MODEL ; GENES ; TIME ; CELL-CYCLE ; ASSOCIATION ; single nucleotide polymorphism ; breast cancer ; PROGRESSION ; AMPLIFICATION ; PROMOTER ; case-control study ; SINGLE NUCLEOTIDE POLYMORPHISMS ; GENOTYPE ; susceptibility loci ; GENOME-WIDE ASSOCIATION ; 20q13 ; B-MYB TRANSCRIPTION
    Abstract: The 20q13 region is frequently amplified/overexpressed in breast tumours. However, the nature of this amplification/overexpression is unknown. Here, we investigated genetic variation in five 20q13 amplicon genes (MYBL2, AURKA, ZNF217, STK4 and PTPN1) and its impact on breast cancer (BC) susceptibility and clinical outcome. As a novel finding, four polymorphisms in STK4 (rs6017452, rs7271519) and AURKA (rs2273535, rs8173) associated with steroid hormone receptor status both in a Swedish population-based cohort of 783 BC cases and in a Polish familial/early onset cohort of 506 BC cases. In the joint analysis, the minor allele carriers of rs6017452 had more often hormone receptor positive tumours (OR 0.57, 95% CI 0.40-0.81), while homozygotes for the minor allele of rs7271519, rs2273535 and rs8173 had more often hormone receptor negative tumours (2.26, 1.30-3.39; 2.39, 1.14-5.01; 2.39, 1.19-4.80, respectively) than homozygotes for the common allele. BC-specific survival analysis of AURKA suggested that the Swedish carriers of the minor allele of rs16979877, rs2273535 and rs8173 might have a worse survival compared with the major homozygotes. The survival probabilities associated with the AURKA genotypes depended on the tumour phenotype. In the Swedish case-control study, associations with BC susceptibility were observed in a dominant model for three MYBL2 promoter polymorphisms (rs619289, P = 0.02; rs826943, P = 0.03 and rs826944, P = 0.02), two AURKA promoter polymorphisms (rs6064389, P = 0.04 and rs16979877, P = 0.02) and one 3'UTR polymorphism in ZNF217 (rs1056948, P = 0.01). In conclusion, our data confirmed the impact of the previously identified susceptibility locus and provided preliminary evidence for novel susceptibility variants in BC. We provided evidence for the first time that genetic variants at 20q13 may affect hormone receptor status in breast tumours and influence tumour aggressiveness and survival of the patients. Future studies are needed to confirm the prognostic value of our findings in the clinic.
    Type of Publication: Journal article published
    PubMed ID: 21630024
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  • 13
    Keywords: APOPTOSIS ; CANCER ; RISK ; METABOLISM ; polymorphism ; breast cancer ; WOMEN ; RANDOMIZED CONTROLLED-TRIAL ; ESTROGEN PLUS PROGESTIN ; CYTOCHROME-P450 ; GENE VARIANT ; 2C19
    Type of Publication: Journal article published
    PubMed ID: 22037784
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  • 14
    Keywords: APOPTOSIS ; CANCER ; CELL ; Germany ; LUNG-CANCER ; DISEASE ; POPULATION ; RISK ; ENZYMES ; GENE ; transcription ; DNA ; SKIN ; cell cycle ; CELL-CYCLE ; CYCLE ; FREQUENCY ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; VARIANTS ; FREQUENCIES ; BREAST ; breast cancer ; BREAST-CANCER ; IDENTIFICATION ; WOMEN ; DNA-REPAIR ; MUTATION ; REPAIR ; smoking ; SPECTROMETRY ; LINE ; BLADDER-CANCER ; cancer risk ; REGION ; GENOTYPES ; MASS-SPECTROMETRY ; MUTATIONS ; ADDUCTS ; CARRIERS ; case-control studies ; CANCER-RESEARCH ; GERM-LINE ; CYCLE CONTROL ; EXCISION-REPAIR ; DNA-REPAIR GENES ; SKIN-CANCER ; MASSES ; POTENT ; case control study ; case-control study ; VARIANT ; CANCER SUSCEPTIBILITY ; LYS751GLN POLYMORPHISM ; XPD ; XPD POLYMORPHISMS
    Abstract: The polygenic concept of breast cancer susceptibility calls for the identification of genetic variants that contribute to breast cancer risk. Reduced DNA repair proficiencies in women with breast cancer pointed to a possible role of DNA repair enzymes in the risk to develop the disease. The nucleotide excision repair enzyme encoded by the excision repair cross-complementing group 2 gene ERCC2 (formerly XPD) known to cause skin cancer by germ line mutations has multiple regulatory cellular functions, including nucleotide excision repair, basal transcription, cell cycle control, and apoptosis. ERCC2 polymorphisms ERCC2_6540_G〉A (Asp(312)Asn) and ERCC2_18880_A〉C (Lys(751)Gln) within the coding region of this evolutionarily highly conserved gene have been of functional relevance and therefore are potential candidates to confer breast cancer susceptibility. Using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, we analyzed genotype frequencies in constitutional DNA of study participants of a German case-control study that included 688 cases of incident breast cancer and 724 population-based, age-matched controls. We identified ERCC2_6540_GG (Asp(312)Asp) as an at-risk genotype [odds ratio (OR), 2.06; 95% confidence interval (95% CI), 1.39-3.07]. The ERCC2_6540_GG-associated breast cancer risk was even higher in women who were also carriers of the ERCC2_18880_CC (Gln(751)Gln) genotype (OR, 3.69; 95% CI, 1.76-7.74). We identified ERCC2_6540_G/ERCC2_18880_C (Asp(312)/Gln(751)) as the most potent risk-conferring haplotype (OR, 3.49; 95% CI, 2.30-5.28). To our knowledge, this is the first study assigning breast cancer risk to both the ERCC2 genotype encoding Asp(312)Asp and the haplotype encoding Asp(312)/Gln(751)
    Type of Publication: Journal article published
    PubMed ID: 15598761
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  • 15
    Keywords: RECEPTOR ; CANCER ; GROWTH ; GROWTH-FACTOR ; tumor ; COMBINATION ; FACTOR RECEPTOR ; KINASE ; THERAPY ; DISEASE ; DIFFERENTIATION ; TUMORS ; PATIENT ; MARKER ; CONTRAST ; FREQUENCY ; LINKAGE ; BREAST ; breast cancer ; BREAST-CANCER ; IDENTIFICATION ; DESIGN ; BRCA1 ; MUTATION ; LINE ; MARKERS ; MUTATIONS ; BENIGN ; PHENOTYPE ; CARRIERS ; PREDICTION ; GERM-LINE ; pathology ; BRCA2 MUTATIONS ; PROGNOSTIC MARKERS ; MULTIVARIATE-ANALYSIS ; BRCA2 ; mutation testing ; GENE-EXPRESSION PROFILES ; MUTATION STATUS ; ESTROGEN ; CARRIER ; TESTS ; estrogen receptor ; CENTRAL ACELLULAR ZONES ; INVASIVE DUCTAL CARCINOMAS ; MYOEPITHELIAL CELLS
    Abstract: Purpose: To investigate the proportion of breast cancers arising inpatients with germ line BRCA1 and BRCA2 mutations expressing basal markers and developing predictive tests for identification of high-risk patients. Experimental Design: Histopathologic material from 182 tumors in BRCA1 mutation carriers, 63 BRCA2 carriers, and 109 controls, collected as part of the international Breast Cancer Linkage Consortium were immunohistochemically stained for CK14, CK5/6, CK17, epidermal growth factor receptor (EGFR), and osteonectin. Results: All five basal markers were commoner in BRCA1 tumors than in control tumors (CK14: 61% versus 12%; CK5/6: 58% versus 7%; CK17: 53% versus 10%; osteonectin: 43% versus 19%; EGFR: 67% versus 21%; P 〈 0.0001 in each case). In a multivariate analysis, CK14, CK5/6, and estrogen receptor (ER) remained significant predictors of BRCA1 carrier status. In contrast, the frequency of basal markers in BRCA2 tumors did not differ significant from controls. Conclusion: The use of cytokeratin staining in combination with ER and morphology provides a more accurate predictor of BRCA1 mutation status than previously available, that may be useful in selecting patients for BRCA1 mutation testing. The high percentage of BRCA1 cases positive for EGFR suggests that specific anti-tyrosine kinase therapy may be of potential benefit in these patients
    Type of Publication: Journal article published
    PubMed ID: 16033833
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  • 16
    Keywords: CANCER ; Germany ; DIAGNOSIS ; screening ; HISTORY ; POPULATION ; RISK ; GENOME ; PROTEIN ; PATIENT ; DNA ; FAMILY ; FREQUENCY ; polymorphism ; SUSCEPTIBILITY GENES ; BREAST ; breast cancer ; BREAST-CANCER ; IDENTIFICATION ; AGE ; BRCA1 ; family history ; ovarian cancer ; OVARIAN-CANCER ; MUTATION ; COUNTRIES ; RATES ; LINE ; MUTATIONS ; CANCER-PATIENTS ; GERM-LINE ; PREVALENCE ; CANCER PATIENTS ; BRCA2 MUTATIONS ; germline mutations ; RE ; BRCA2 ; FAMILIES ; technique ; FAMILY-HISTORY ; LIQUID ; OVARIAN ; HEREDITARY BREAST ; EARLY-ONSET ; 185DELAG ; GENETIC-HETEROGENEITY ; germ line mutations ; hereditary breast/ovarian cancer ; Pakistan
    Abstract: Among Asian countries, Pakistan has the highest rates of breast and ovarian cancer. To assess the contribution of the BRCA1 and BRCA2 germ line mutations to these high rates, we conducted the first study of 176 Pakistani breast and ovarian cancer patients, selected on family history and on age of diagnosis. Comprehensive BRCA mutation screening was performed using a range of techniques, including denaturing high-pressure liquid chromatography, single strand conformational polymorphism analysis and protein truncation test, followed by DNA sequencing. Thirty deleterious germ-line mutations were identified in the 176 families (17.0%), including 23 in BRCA1 and 7 in BRCA2. Four mutations, 185delAG, 185insA, S1503X and R1835X, were recurrent; these accounted for 52% of all identified BRCA1 mutations. Haplotype analyses suggested founder effects for 3 of these. The prevalence of BRCA1 or BRCA2 mutations was 42.8% for families with multiple cases of breast cancer, and was 50.0% for the breast/ovarian cancer families. The prevalence of mutations was 11.9% for single cases of early-onset breast cancer (〈= 30 years) and was 9.0% for single cases of early-onset ovarian cancer (〈= 45 years). Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer and early-onset breast and ovarian cancer cases in Pakistan. (c) 2006 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 16998791
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  • 17
    Keywords: SPECTRA ; CANCER ; Germany ; screening ; COHORT ; POPULATION ; RISK ; GENOME ; DNA ; FAMILY ; BREAST ; breast cancer ; BREAST-CANCER ; BRCA1 ; MUTATION ; COUNTRIES ; MUTATIONS ; POPULATIONS ; UNITED-STATES ; RISK ASSESSMENT ; PREVALENCE ; BRCA2 MUTATIONS ; germline mutations ; ORIGIN ; BRCA2 ; FAMILIES ; analysis ; mutation screening ; technique ; SSCP ; cancer research ; SPECTRUM ; Colombia ; hereditary breast/ovarian cancer
    Abstract: In South America, a high proportion of the population is of Hispanic origin with an important representation in Colombia. Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. Comprehensive BRCA mutation screening was performed using a range of techniques, including DHPLC, SSCP, and PTT, followed by DNA sequencing analysis. Thirteen deleterious germline mutations (24.5%) were identified in 53 families, comprising eight in BRCA1 and five in BRCA2. The two recurrent BRCA1 mutations, 3450 delCAAG and A1708E, accounted for 100% of all BRCA1 mutations identified in this cohort and the recurrent 3034 delACAA BRCA2 mutation for 40% of all BRCA2 mutations. Haplotype analyses suggested that each of these mutations has arisen from a common ancestor. The prevalence of BRCA1 or BRCA2 mutations was 50% in multiple case breast cancer families, and was 33% for the breast-ovarian cancer families. Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia. The spectrum of mutations differed completely to that previously reported in Hispanic families of predominantly Mexican origin from Southern California [1] suggesting that specific genetic risk assessment strategies for the different Hispanic populations in South America and in the United States need to be developed
    Type of Publication: Journal article published
    PubMed ID: 17080309
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  • 18
    Keywords: CANCER ; COMMON ; RISK ; GENE ; GENES ; validation ; DNA ; SUFFICIENT ; ASSOCIATION ; SUSCEPTIBILITY ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; IDENTIFICATION ; BRCA1 ; MUTATION ; cancer risk ; MUTATIONS ; LENGTH ; PHENOTYPE ; REPLICATION ; CARRIERS ; FUTURE ; BRCA2 MUTATIONS ; AUSTRALIA ; ONCOLOGY ; RE ; BRCA2 ; VARIANT ; PENETRANCE ; MUTATION CARRIERS ; CARRIER ; single-nucleotide polymorphism ; POWER ; SIZE ; mammographic density ; CANCERS ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; RAD51 ; ENGLAND ; GENOME-WIDE ASSOCIATION ; BRCA2 MUTATION ; AIB1 GENE ; association study ; POLYGLUTAMINE REPEAT ; RECEPTOR CAG REPEAT
    Abstract: BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among carriers. However, studies aimed at identifying these factors have been limited in size and statistical power, and have yet to identify any convincingly validated modifiers of the BRCA1 and BRCA2 phenotype. To generate sufficient statistical power to identify modifier genes, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 ( CIMBA) has been established. CIMBA contains about 30 affiliated groups who together have collected DNA and clinical data from approximately 10,000 BRCA1 and 5,000 BRCA2 mutation carriers. Initial efforts by CIMBA to identify modifiers of breast cancer risk for BRCA1 and BRCA2 mutation carriers have focused on validation of common genetic variants previously associated with risk in smaller studies of carriers or unselected breast cancers. Future studies will involve replication of findings from pathway-based and genome-wide association studies in both unselected and familial breast cancer. The identification of genetic modifiers of breast cancer risk for BRCA1 and BRCA2 mutation carriers will lead to an improved understanding of breast cancer and may prove useful for the determination of individualized risk of cancer amongst carriers
    Type of Publication: Journal article published
    PubMed ID: 17466083
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  • 19
    Keywords: CANCER ; COMMON ; DISEASE ; RISK ; RISKS ; GENE ; GENES ; primary ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; SUSCEPTIBILITY ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; STAGE ; PATTERNS ; OVARIAN-CANCER ; SNP ; DATABASE ; Jun ; POPULATIONS ; familial risk ; BRCA2 MUTATIONS ; SUSCEPTIBILITY GENE ; SINGLE ; AGGREGATION ; VARIANT ; ALLELE ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; CANCER SUSCEPTIBILITY ; ALLELES ; LEVEL ; familial aggregation ; single-nucleotide ; UNIT ; ENGLAND ; LOCI ; CHEK2-ASTERISK-1100DELC ; breast cancer susceptibility ; GENOME-WIDE ASSOCIATION ; association study ; GENETIC-SUSCEPTIBILITY ; GROWTH-FACTOR RECEPTOR-2
    Abstract: Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77% of known common SNPs in Europeans at r(2) 〉 0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P 〈 10(-7)). Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P 〈 0.05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach
    Type of Publication: Journal article published
    PubMed ID: 17529967
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  • 20
    Keywords: CANCER ; DISEASE ; POPULATION ; RISK ; SITE ; SITES ; GENE ; GENES ; REDUCTION ; ASSOCIATION ; polymorphism ; BREAST ; breast cancer ; BREAST-CANCER ; prevention ; MALIGNANCIES ; AGE ; BRCA1 ; ovarian cancer ; OVARIAN-CANCER ; WOMEN ; MUTATION ; REPAIR ; cancer risk ; REGION ; MUTATIONS ; POPULATIONS ; SERIES ; MALIGNANCY ; FAMILIES ; PENETRANCE ; MUTATION CARRIERS ; single-nucleotide polymorphism ; CANCER-RISK ; RAD51 ; OVARIAN ; PREDICT ; NONCARRIERS
    Abstract: Breast and ovarian cancer penetrance in BRCA1 mutation carriers is estimated to be between 15% and 80% by age 70 years. At present, it is not possible to predict with any certainty who is most likely to develop disease or which age it will develop. Previous studies have tried to correlate the sites of BRCA1 mutations with disease risk; however, the results have not yielded any definitive association. An alternative explanation that could account for differences in the penetrance of BRCA1 mutations is the action of modifier genes. In this study, we have investigated the role of the RAD51_135+_G 〉 C polymorphism in breast and ovarian cancer case-control populations of Polish women who have been matched for BRCA1 mutation and year of birth. The results reveal that women who harbor the C allele have almost twice the reduction in breast and ovarian cancer risk compared with women who harbor only the G allele. These findings suggest that the effect of the RAD51 C allele is an important risk modifier for malignancies occurring on a background of BRCA1 mutations. In addition, we were able to show that the site of the BRCA1 mutation does not influence the effect of the RAD51 C allele, indicating that this polymorphism contributes to prevention of disease in BRCA1 carriers. In conclusion, the RAD51 C allele seems to protect against both breast and ovarian cancer in women harboring BRCA1 mutations
    Type of Publication: Journal article published
    PubMed ID: 17301259
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