Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

被引:77
作者
Taylor, Amy [1 ]
Brady, Angela F. [2 ]
Frayling, Ian M. [3 ,4 ]
Hanson, Helen [5 ]
Tischkowitz, Marc [1 ,6 ]
Turnbull, Clare [7 ,8 ,9 ]
Side, Lucy [10 ]
机构
[1] Cambridge Univ Hosp NHS Fdn Trust, East Anglian Med Genet Serv, Cambridge CB2 0QQ, England
[2] Northwick Pk & St Marks Hosp, North West Thames Reg Genet Serv, Harrow, Middx, England
[3] Univ Hosp Wales, Inst Med Genet, All Wales Med Genet Serv, Cardiff, S Glam, Wales
[4] Cardiff Univ, Inst Canc & Genet, Cardiff, S Glam, Wales
[5] St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England
[6] Univ Cambridge, Dept Med Genet, Cambridge, England
[7] Inst Canc Res, Div Genet & Epidemiol, London, England
[8] Guys & St Thomas NHS Fdn Trust, South East Thames Reg Genet Serv, London, England
[9] Queen Mary Univ, William Harvey Res Inst, London, England
[10] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England
关键词
BREAST-CANCER; COLORECTAL-CANCER; TRUNCATING VARIANTS; CLINICAL MANAGEMENT; RISK; MODERATE; RECOMMENDATIONS; MUTATIONS; FAMILIES; CARRIERS;
D O I
10.1136/jmedgenet-2017-105188
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:372 / 377
页数:6
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