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  • 1
    Keywords: CANCER ; Germany ; DISEASE ; RISK ; GENE ; GENOME ; RNA ; ASSOCIATION ; polymorphism ; BREAST ; breast cancer ; BREAST-CANCER ; NO ; OVARIAN-CANCER ; WOMEN ; MUTATION ; cancer risk ; REGION ; genotyping ; MUTATIONS ; case-control studies ; ONCOLOGY ; case-control study ; REGRESSION ; RE ; FAMILIES ; PENETRANCE ; analysis ; methods ; SUPPRESSOR ; GENOTYPE ; BRCA1 MUTATION CARRIERS ; BIRTH ; CANCER-RISK ; FRAGMENT ; ENGLAND ; comparison ; Rb ; UNTRANSLATED REGION
    Abstract: Background: The variable penetrance of ovarian cancer in BRCA1 mutation carriers suggests that other genetic or environmental factors modify disease risk. 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. Methods: To investigate whether the PHB 3' UTR polymorphism also modifies hereditary ovarian cancer risk, we performed a case-control study among Polish women carrying one of the three common founder mutations (5382insC, 300 T 〉 G, 4154delA) including 127 ovarian cases and 127 unaffected controls who had both breasts and ovaries intact. Controls were matched to cases by year of birth and BRCA1 mutation. Genotyping analysis was performed using PCR-based restriction fragment length polymorphism analysis. Odds ratios ( OR) were calculated using conditional and penalized univariable and multivariable logistic regression. Results: A comparison of the genotype frequencies between cases and controls revealed no association of the PHB 3'UTR_CT+TT genotypes with ovarian cancer risk ( ORadj 1.34; 95% CI, 0.59-3.11). Conclusion: Our data suggest that the PHB 3' UTR polymorphism does not modify ovarian cancer risk in women carrying one of the three Polish BRCA1 founder mutations
    Type of Publication: Journal article published
    PubMed ID: 18397521
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  • 2
    Keywords: ASSOCIATION ; STEM-CELLS ; SKIN-CANCER ; CELL CARCINOMA ; CANCER-RISK ; SEQUENCE VARIANTS ; GENOTYPE IMPUTATION ; MEAN TELOMERE LENGTH ; PHENOTYPIC CHARACTERISTICS ; FIELD SYNOPSIS
    Abstract: Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P 〈 5 x 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.
    Type of Publication: Journal article published
    PubMed ID: 26237428
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  • 3
    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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  • 4
    Keywords: RECEPTOR ; CANCER ; CELLS ; CELL ; Germany ; RISK ; RISKS ; GENE ; GENOME ; ACTIVATED PROTEIN-KINASE ; ASSOCIATION ; polymorphism ; BREAST ; breast cancer ; BREAST-CANCER ; GLYCOPROTEIN ; NO ; IN-SITU ; SUBUNIT ; BRCA1 ; ovarian cancer ; OVARIAN-CANCER ; WOMEN ; MUTATION ; genetics ; PCR ; cancer risk ; MUTATIONS ; BETA ; ADHESION ; INTEGRIN ; SERIES ; RECEPTORS ; heredity ; REGRESSION ; RE ; INCREASE ; MUTATION CARRIERS ; HOMOZYGOSITY ; INTEGRINS ; case control studies ; analysis ; function ; INCREASED RISK ; odds ratio ; VARIABLES ; CANCER-RISK ; FRAGMENT ; OVARIAN ; FUNCTIONAL POLYMORPHISM ; INCREASES ; LOGISTIC-REGRESSION ; - ; OOPHORECTOMY ; ALPHA-V-BETA-3 ; PLATELET GLYCOPROTEIN-IIIA
    Abstract: Integrins are heterodimeric transmembrane glycoproteins that function as key adhesion and cell signalling receptors. A functional polymorphism in the integrin beta 3 subunit encoded by the ITGB3 gene, Leu33Pro, has been shown to modify a variety of traits of beta 3-expressing cells. To analyse the role of this functional polymorphism in modifying BRCA1-associated ovarian and breast cancer risks, a case - control study was performed among Polish BRCA1 mutation carriers including 319 breast cancer cases, 146 ovarian cancer cases and 290 controls unaffected by breast and ovarian cancer, in situ breast cancer or any other kind of cancer. Genotyping analysis was performed using PCR- based restriction fragment length polymorphism analysis. Odds ratios were calculated using univariate and multivariate logistic regression, taking into account a series of confounding variables, including the presence of related study subjects, that potentially could have biased any association. The results revealed that the ITGB3_ Leu33Pro polymorphism was associated with a 2.5- fold increased risk of ovarian cancer, whereas no association with breast cancer risk was found. Thus, it appears that the ITGB3_ Leu33Pro polymorphism may potentially increase the risk of ovarian cancer in Polish women with an inherited BRCA1 mutation
    Type of Publication: Journal article published
    PubMed ID: 17220212
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  • 5
    Keywords: CANCER ; carcinoma ; Germany ; CT ; DISEASE ; NEW-YORK ; RISK ; GENE ; GENOME ; PATIENT ; polymorphism ; BREAST ; breast cancer ; BREAST-CANCER ; IN-SITU ; BRCA1 ; ovarian cancer ; OVARIAN-CANCER ; WOMEN ; MUTATION ; PCR ; cancer risk ; REGION ; GENOTYPES ; HEREDITARY ; BREAST-CARCINOMA ; CARRIERS ; YOUNG ; ONCOLOGY ; case control study ; REGRESSION ; RE ; FAMILIES ; ALLELE ; INCREASE ; PENETRANCE ; TRANSITION ; MUTATION CARRIERS ; case control studies ; analysis ; SUPPRESSOR ; GENOTYPE ; breast carcinoma ; USA ; function ; female ; INCREASED RISK ; odds ratio ; CANCER-RISK ; inherited mutations ; OVARIAN ; HEREDITARY BREAST ; ENVIRONMENTAL-FACTORS ; INCREASES ; LOGISTIC-REGRESSION ; - ; BRCA1 carriers ; OOPHORECTOMY ; BILATERAL PROPHYLACTIC MASTECTOMY ; hereditary breast cancer ; prohibitin 3 ' untranslated region polymorphism ; risk modifier ; UNTRANSLATED REGION
    Abstract: The variable penetrance of breast cancer in BRCA1 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. The C to T transition in the 3 ' untranslated region of the prohibitin ( PHB) gene alters mRNA function and has been shown to be associated with an increased breast cancer risk among young North- American women who have one first- degree relative with breast cancer. To investigate whether the PHB 3 ' UTR polymorphism acts as a modifier of hereditary breast cancer risk we performed a case- control study among female BRCA1 mutation carriers, which included 258 cases and 258 controls who were unaffected by ovarian cancer, in situ breast carcinoma or any other type of cancer. Controls were matched to cases by year of birth and BRCA1 mutation ( 5382insC, 300 T 〉 G, 4153delA). Genotyping analysis was performed using RFLP- PCR. Odds ratios ( OR) were calculated using conditional and penalised univariable and multivariable logistic regression. Multivariable penalised logistic regression revealed CT ( ORadj, 2.03; 95% CI, 1.17 - 3.59) and combined CT + TT ( ORadj, 2.12; 95% CI, 1.23 - 3.70) genotypes as significant modifiers of breast cancer risk. 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
    Type of Publication: Journal article published
    PubMed ID: 17004108
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  • 6
    Keywords: CANCER ; tumor ; RISK ; TUMORS ; SUFFICIENT ; ASSOCIATION ; chromosome ; FREQUENCY ; polymorphism ; POLYMORPHISMS ; FREQUENCIES ; BREAST ; breast cancer ; BREAST-CANCER ; MOUSE ; NO ; PROGRESSION ; AMPLIFICATION ; HEALTH ; NUMBER ; BRCA1 ; MUTATION ; inactivation ; cancer risk ; MUTATIONS ; ONCOGENE ; CARRIERS ; INDIVIDUALS ; OVEREXPRESSION ; BRCA2 MUTATIONS ; SUSCEPTIBILITY GENE ; ONCOLOGY ; BRCA2 ; ALLELE ; MUTATION CARRIERS ; development ; HOMOZYGOSITY ; biomarker ; INTERVAL ; BREAST-TUMORS ; USA ; cancer research ; CANCER-RISK ; ANEUPLOIDY ; AURORA-A ; TUMOR-DEVELOPMENT ; OOPHORECTOMY ; CHROMOSOME SEGREGATION ; DNA-SEQUENCE VARIANTS ; UNKNOWN CLINICAL-SIGNIFICANCE
    Abstract: The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 311 allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.061. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% Cl, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers
    Type of Publication: Journal article published
    PubMed ID: 17627006
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  • 7
    Keywords: CANCER ; COHORT ; POPULATION ; RISK ; SUSCEPTIBILITY ; BREAST-CANCER ; HEALTH ; BRCA1 ; OVARIAN-CANCER ; WOMEN ; MUTATION ; cancer risk ; ORAL-CONTRACEPTIVE USE ; COLLABORATIVE REANALYSIS ; EXTENT ; CANCER-RISK ; GENERAL-POPULATION ; NONCARRIERS ; HORMONAL FACTORS ; STATES CASE-CONTROL ; GEO-HEBON ; IBCCS ; TUBAL-LIGATION
    Abstract: Background: Several reproductive and hormonal factors are known to be associated with ovarian cancer risk in the general population, including parity and oral contraceptive (00 use. However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies. Methods: We used data on 2,281. BRCA1. carriers and 1,038 BRCA2 carriers from the International BRCA1/2 Carrier Cohort Study to evaluate the effect of reproductive and hormonal factors on ovarian cancer risk for mutation carriers. Data were analyzed within a weighted Cox proportional hazards framework. Results: There were no significant differences in the risk of ovarian cancer between parous and nulliparous carriers. For parous BRCA1 mutation carriers, the risk of ovarian cancer was reduced with each additional full-term pregnancy (P trend = 0.002). BRCA1 carriers who had ever used OC were at a significantly reduced risk of developing ovarian cancer (hazard ratio, 0.52; 95% confidence intervals, 0.37-0.73; P = 0.0002) and increasing duration of OC use was associated with a reduced ovarian cancer risk (P trend = 0.0004). The protective effect of OC use for BRCA1 mutation carriers seemed to be greater among more recent users. Tubal ligation was associated with a reduced risk of ovarian cancer for BRCA1 carriers (hazard ratio, 0.42; 95% confidence intervals, 0.22-0.80; P = 0.008). The number of ovarian cancer cases in BRCA2 mutation carriers was too small to draw definitive conclusions. Conclusions: The results provide further confirmation that OC use, number of full-term pregnancies, and tubal ligation are associated with ovarian cancer risk in BRCA1 carriers to a similar relative extent as in the general population. (Cancer Epidemiol Biomarkers Prev 2009;18(2):601-10)
    Type of Publication: Journal article published
    PubMed ID: 19190154
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  • 8
    Keywords: CANCER ; evaluation ; human ; POPULATION ; RISK ; GENE ; GENES ; primary ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; SUSCEPTIBILITY GENES ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; NO ; AGE ; BRCA1 ; MUTATION ; p53 ; cancer risk ; SERIES ; BRCA1/2 ; SUSCEPTIBILITY GENE ; ONCOLOGY ; BRCA2 ; VARIANT ; P53 GENE ; HAPLOTYPE ; HAPLOTYPES ; CANCER-RISK ; ENGLAND ; INSERTION ; CANCER SUSCEPTIBILITY GENE ; breast cancer risk ; CONSORTIUM ; INVESTIGATORS ; MODIFIERS ; TP53 CODON-72
    Abstract: The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2
    Type of Publication: Journal article published
    PubMed ID: 18781154
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  • 9
    Keywords: CANCER ; GROWTH ; tumor ; RISK ; GENE ; ASSOCIATION ; polymorphism ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; SUBUNIT ; BRCA1 ; ovarian cancer ; OVARIAN-CANCER ; MUTATION ; METASTASIS ; INTEGRIN ; germline mutations ; ONCOLOGY ; FRAMEWORK ; BRCA2 ; TUMOR-GROWTH ; PENETRANCE ; MUTATION CARRIERS ; INCREASED RISK ; CANCER-RISK ; retrospective ; DNA-SEQUENCE VARIANTS ; UNKNOWN CLINICAL-SIGNIFICANCE ; PLATELET GLYCOPROTEIN-IIIA ; breast cancer risk ; LIKELIHOOD ; BRCA2 MUTATION CARRIERS ; BETA-3 ; INTEGRIN ALPHA-V-BETA-3 ; ITGB3 Leu33Pro ; PL(A2) POLYMORPHISM
    Abstract: Integrins containing the beta(3) subunit are key players in tumor growth and metastasis. A functional Leu33Pro polymorphism (rs5918) in the beta(3) subunit of the integrin gene (ITGB3) has previously been suggested to act as a modifier of ovarian cancer risk in Polish BRCA1 mutation carriers. To investigate the association further, we genotyped 9,998 BRCA1 and 5,544 BRCA2 mutation carriers from 34 studies from the Consortium of Investigators of Modifiers of BRCA1/2 for the ITGB3 Leu33Pro polymorphism. Data were analysed within a Cox-proportional hazards framework using a retrospective likelihood approach. There was marginal evidence that the ITGB3 polymorphism was associated with an increased risk of ovarian cancer for BRCA1 mutation carriers (per-allele Hazard Ratio (HR) 1.11, 95% CI 1.00-1.23, p-trend 0.05). However, when the original Polish study was excluded from the analysis, the polymorphism was no longer significantly associated with ovarian cancer risk (HR 1.07, 95% CI 0.96-1.19, p-trend 0.25). There was no evidence of an association with ovarian cancer risk for BRCA2 mutation carriers (HR 1.09, 95% CI 0.89-1.32). 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
    Type of Publication: Journal article published
    PubMed ID: 19876733
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