Abstract:
:Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services. Using a preworkshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services. To support consistency in the delivery of these tests and advice given to families across the country, we also developed management proposals for individuals who are found to have pathogenic mutations in these genes. However, we fully acknowledge that the decision regarding what test is most appropriate for an individual family rests with the clinician, and will depend on factors including specific phenotypic features and the family structure.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Taylor A,Brady AF,Frayling IM,Hanson H,Tischkowitz M,Turnbull C,Side L,UK Cancer Genetics Group (UK-CGG).doi
10.1136/jmedgenet-2017-105188subject
Has Abstractpub_date
2018-06-01 00:00:00pages
372-377issue
6eissn
0022-2593issn
1468-6244pii
jmedgenet-2017-105188journal_volume
55pub_type
杂志文章abstract:BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...
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journal_title:Journal of medical genetics
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pub_type: 杂志文章,评审
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1996-04-01 00:00:00
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journal_title:Journal of medical genetics
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