scholarly journals Cancer Genetics Services in the UK

1999 ◽  
Vol 15 (1-3) ◽  
pp. 44-45 ◽  
Author(s):  
Shirley V. Hodgson
Keyword(s):  
Cancer Genetics ◽  
Genetics Services ◽  
The Uk

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

2018 ◽  
Vol 55 (6) ◽  
pp. 372-377 ◽  
Author(s):  
Amy Taylor ◽  
Angela F Brady ◽  
Ian M Frayling ◽  
Helen Hanson ◽  
Marc Tischkowitz ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Cancer Genetics ◽  
Sufficient Evidence ◽  
Clinical Genetics ◽  
Cancer Genes ◽  
Limited Data ◽  
New Genes ◽  
The Family ◽  
Genetics Services ◽  
The Uk

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.

scholarly journals Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Lucie G. Hallenstein ◽  
Carol Sorensen ◽  
Lorraine Hodgson ◽  
Shelly Wen ◽  
Justin Westhuyzen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Cancer Genetics ◽  
Eligibility Criteria ◽  
Pathogenic Variants ◽  
Genetics Services ◽  
Age Of Diagnosis ◽  
Over Time

Abstract Background Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014–2018. Methods Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. Results There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014–2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. Conclusions Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment.

scholarly journals Cancer Genetics Services in Northern Ireland

1999 ◽  
Vol 15 (1-3) ◽  
pp. 37-40 ◽  
Author(s):  
P. J. Morrison ◽  
N. C. Nevin
Keyword(s):  
Northern Ireland ◽  
Cancer Genetics ◽  
Genetics Services

The role of patient users in cancer genetics services in primary care

2007 ◽  
Vol 6 (2) ◽  
pp. 241-248 ◽  
Author(s):  
Melanie Ripley ◽  
Deborah Sullivan ◽  
Jo Evans
Keyword(s):  
Primary Care ◽  
Cancer Genetics ◽  
Genetics Services

scholarly journals Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Gut ◽  
2019 ◽  
Vol 69 (3) ◽  
pp. 411-444 ◽  
Author(s):  
Kevin J Monahan ◽  
Nicola Bradshaw ◽  
Sunil Dolwani ◽  
Bianca Desouza ◽  
Malcolm G Dunlop ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Great Britain ◽  
Family History ◽  
Cancer Genetics ◽  
Genetic Diagnosis ◽  
Lifetime Risk ◽  
British Society ◽  
Screening And Surveillance ◽  
History Of ◽  
The Uk

Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.

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