Dataset Information

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

ABSTRACT: In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.

SUBMITTER: Gadzicki D

PROVIDER: S-EPMC3186026 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

Gadzicki Dorothea D Evans D Gareth DG Harris Hilary H Julian-Reynier Claire C Nippert Irmgard I Schmidtke Jörg J Tibben Aad A van Asperen Christi J CJ Schlegelberger Brigitte B

Journal of community genetics 20110302 2

In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counsellin ...[more]

PMID: 22109790

Similar Datasets

Project description:ImportanceGermline testing guidelines are suggested for specific disease types or a family history of cancer, yet alterations are found in cancer types in which germline testing is not routinely indicated. The clinical role of identifying germline variants in these populations is valuable to patients and their at-risk relatives.ObjectiveTo evaluate the prevalence of germline findings in patients undergoing tumor/normal matched sequencing among cancer types lacking guidelines.Design, setting, and participantsThis retrospective cross-sectional study took place on August 18, 2021, and included data from deidentified records of patients tested, using the Tempus xT tumor/normal matched approach from November 2017 to August 2021. Records included in this study were from 34 642 patients treated in geographically diverse oncology practices in the US with a diagnosis of any of the following cancers: bladder, brain, lung, esophagus, cholangiocarcinoma, head and neck, breast, ovarian, pancreatic, prostate, endometrial, and colorectal.Main outcomes and measuresThe rate of germline findings (ie, single-nucleotide variants and small insertions or deletions) detected in 50 reportable hereditary cancer genes was calculated for cancer types lacking guidelines for germline testing (bladder, brain, lung, esophagus, cholangiocarcinoma, and head and neck) and cancer types for which germline testing is frequently performed (breast, ovarian, pancreatic, prostate, endometrial, and colorectal). Same-gene second somatic hits were assessed to provide a comprehensive assessment on genomic drivers.ResultsOf 34 642 patients, 18 888 were female (54.5%); of 27 498 patients whose age at diagnosis was known, mean (SD) age was 62.23 (3.36) years. A total of 2534 of 34 642 patients (7.3%) harbored pathogenic or likely pathogenic germline variants. Within the tumor types lacking testing guidelines, germline mutations were at 6.6% (79/1188) in bladder cancer and 5.8% (448/7668) in lung cancer.Conclusions and relevanceThis study may present the largest retrospective analysis to date of deidentified real-world data from patients diagnosed with advanced cancer with tumor/normal matched sequencing data and the prevalence of pathogenic or likely pathogenic germline variants in cancer types lacking hereditary cancer testing guidelines. The findings suggest there may be clinical implications for patients and their at-risk family members in cancers for which germline assessment primarily based on the cancer diagnosis is rarely obtained.

Project description:This data article contains information on the distribution of household incomes in the five most populous European countries as surveyed in 2012, with data released in 2014 and published here aggregated and so further anonymized in 2015. The underlying source data is the already anonymized EU Statistics on Income and Living Conditions (EUSILC) Microdata. The data include the annual household income required in each country to fall within the best-off 1% in that country, median and mean incomes, average (mean) incomes of the best off 1%, 0.1% and estimates for the 0.01%, 0.001% and so on for the UK, and of the 90% and worse-off 10%, the best-off 10% and best-off 1% of households for all countries. Average income from the state is also calculated by these income categories and the number of people working in finance and receiving over €1,000,000 a year in income is reported from other sources (the European Banking Authority). Finally income distribution data is provided from the USA and the rest of Europe in order to allow comparisons to be made. The data revealed the gross household (simple unweighted) median incomes in 2012 to have been (in order from best-off country by median to worse-off): France €39,000, Germany: €33,400, UK: €36,300, Italy €33,400 and Spain €27,000. However the medians, once households are weighted to reflect the nation populations do differ although they are in the same order: France €36,000, Germany: €33,400, UK: €31,300, Italy €31,000 and Spain €23,700. Thus weighting to increase representativeness of the medians reduces each by €3000, €0, €5000, €3300 and €3300 respectively. In short, the middle (weighted median) French household is €4700 a year better off than the middle UK family, and that is before housing costs are considered. This Data in Brief article accompanies Dorling, D. (2015) Income Inequality in the UK: Comparisons with five large Western European countries and the USA [1].

Project description:BackgroundFamilial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected. This systematic review of guidelines aims to assess the role of genetic testing in the screening, diagnosis, and management of patients affected by heterozygous or homozygous FH and to identify related health-care pathways.MethodsWe performed a systematic review of the literature; inclusion criteria were English or Italian guidelines focusing on genetic testing. The guidelines were included and evaluated for their content and development process using the Appraisal of Guidelines for Research and Evaluation II instrument.ResultsTen guidelines were considered eligible, and all were judged to be of good quality, with slight differences among them. The most common indications for performing genetic tests were high levels of cholesterol, or physical findings consistent with lipid disorder, in the subject or in the family history. Subsequent screening of family members was indicated when a mutation had been identified in the index patient. Regarding patient management, the various guidelines agreed that intensive treatment with lipid-lowering medications should begin as quickly as possible and that lifestyle modifications should be an integral part of the therapy.ConclusionSince the early detection of affected patients is beneficial for effective prevention of CVD, genetic testing is particularly useful for identifying family members via cascade screening and for distinguishing between heterozygous and homozygous individuals, the latter of which require more extreme therapeutic intervention.

Dataset Information

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

Publications

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets