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ABSTRACT: BACKGROUND: We examined the methodological quality of guidelines on syndromes conferring genetic susceptibility to breast cancer. METHODS: PubMed, EMBASE, and Google were searched for guidelines published up to October 2010. All guidelines in English were included. The Appraisal of Guidelines, Research and Evaluation (AGREE) instrument was used to assess the quality of the guidelines, and their reported evidence base was evaluated. RESULTS: Thirteen guidelines were deemed eligible: seven had been developed by independent associations, and the other six had national/state endorsements. Four guidelines performed satisfactorily, achieving a score of greater than 50% in all six AGREE domains. Mean +/- SD standardized scores for the six AGREE domains were: 90 +/- 9% for 'scope and purpose', 51 +/- 18% for 'stakeholder involvement', 55 +/- 27% for 'rigour of development', 80 +/- 11% for 'clarity and presentation', 37 +/- 32% for 'applicability', and 47 +/- 38% for 'editorial independence'. Ten of the thirteen guidelines were found to be based on research evidence. CONCLUSIONS: Given the ethical implications and the high costs of genetic testing for hereditary breast cancer, guidelines on this topic should provide clear and evidence-based recommendations. Our analysis shows that there is scope for improving many aspects of the methodological quality of current guidelines. The AGREE instrument is a useful tool, and could be used profitably by guidelines developers to improve the quality of recommendations.
BMC Medicine 11/2012; 10(1):143. · 6.03 Impact Factor
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ABSTRACT: BACKGROUND: We examined the methodological quality of guidelines on colorectal cancer genetic susceptibility syndromes. METHODS: PubMed, EMBASE, and Google were searched up to July 2010. Adjourned guidelines in English were included. The Appraisal of Guidelines, Research and Evaluation (AGREE) instrument was used to assess their quality, and the reported evidence base of the guidelines was evaluated. RESULTS: The search yielded 17 eligible guidelines: 11 were developed by independent associations, while 6 had national\state endorsement. Only three guidelines performed satisfactorily, achieving a score >50% in all 6 AGREE domains. Mean standardized scores for the 6 AGREE domains were: 'scope and purpose', 83.9 ± 22.5%; 'stakeholder involvement', 35.6 ± 24.9%; 'rigour of development', 48.6 ± 25.3%; 'clarity and presentation', 71.6 ± 19.3%; 'applicability', 33.8 ± 30.1%; 'editorial independence', 42.2 ± 39.7%. Guidelines with national endorsement performed better in all the domains, with a statistically significant difference in three domains. Fifteen guidelines out of 17 were found to be based on research evidence. CONCLUSIONS: There is scope, in many areas, for improving the guidelines analysed, among which are the involvement of various professional figures and patients' representatives, and policies for their application. The AGREE instrument is a useful tool and could also be used profitably by guideline developers to improve the quality of recommendations.
The European Journal of Public Health 12/2011; · 2.73 Impact Factor
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Emma De Feo, Benedetto Simone,
Rachel Simo Kamgaing,
Paola Gallì,
Nobuyuki Hamajima,
Zhibin Hu,
Guojun Li,
Yan Li,
Keitaro Matsuo,
Jae Yong Park,
Susanta Roychoudhury,
Margaret R Spitz,
Qingyi Wei,
Jian-Hui Zhang,
Walter Ricciardi,
Stefania Boccia
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ABSTRACT: The p73 gene (1p36-33) is involved in cancer development through cell growth inhibition by inducing apoptosis in a p53-like manner. The p73 G4C14-to-A4T14 dinucleotide polymorphism, consisting of two single-nucleotide polymorphisms in the non-coding region of exon 2 that are in complete linkage disequilibrium, has been extensively studied in association with cancer risk. We performed a meta-analysis of published studies that examined the association between this p73 G4C14-to-A4T14 polymorphism and cancer by searching for relevant studies on Medline and Embase up to February 28, 2010. Pooling data from 19 case-control studies that included 6510 cancer cases and 5711 controls, we found that carriers of the p73 G4C14-to-A4T14 homozygous variant genotype (AT/AT) had an increased global risk of cancer [odds ratio (OR) = 1.30, 95% confidence interval (CI), 1.03-1.65]. There was no evidence of an effect modification of p73 AT/AT by age, gender, ethnicity or smoking status in subgroup analyses; however, a 1.35-fold statistically significant increased risk was found among individuals <55 years old. In case-only analysis, the homozygous p73 G4C14-to-A4T14 variant of p73 genotype was associated with the presence of the p53 exon 4 Arg72Pro allele (OR = 1.30, 95% CI, 1.02-1.64), which is suggestive of a biological interaction between the two genes in carcinogenesis. In conclusion, the p73 G4C14-to-A4T14 homozygous variant genotype might be a risk factor for cancer, especially in combination with the p53 exon 4 Arg72Pro polymorphism. Further studies looking at p73 G4C14-to-A4T14 and p53 exon 4 Arg72Pro interaction are required to support our findings.
Mutagenesis 10/2011; 27(3):267-73. · 3.18 Impact Factor
