Abstract

BackgroundWe examined the methodological quality of guidelines on syndromes conferring genetic susceptibility to breast cancer.MethodsPubMed, 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.ResultsThirteen 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.ConclusionsGiven 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.

Highlights

  • We examined the methodological quality of guidelines on syndromes conferring genetic susceptibility to breast cancer

  • The main recommendations are focused on women, all the guidelines provide at least some recommendations on syndromic breast cancer in men

  • We aim to evaluate the quality of methodology of guidelines dealing with the issue of genetic testing for hereditary breast cancer, using the Appraisal of Guidelines (AGREE) instrument

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Summary

Introduction

We examined the methodological quality of guidelines on syndromes conferring genetic susceptibility to breast cancer. Breast cancer represents a challenge for public health, and in spite of the extremely high incidence rates, secondary prevention is considered to have a major role in decreasing mortality rates and costs. This notion has been challenged by a recent Cochrane review [1], reporting that screening reduces breast-cancer mortality by around 15%, which corresponds. Woman carrying mutations in either BRCA1 or BRCA2 have an 80 to 90% lifetime risk of developing breast cancer and a 20 to 50% chance of developing ovarian cancer [3]. Thanks to early multimodal screening, breast cancer in people carrying

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