Life expectancy in hereditary cancer predisposing diseases: an observational study

Wilding, Anna; Ingham, Sarah; Lalloo, Fiona; Clancy, Tara; Huson, Susan M.; Moran, Anthony; Evans, D. Gareth

doi:10.1136/jmedgenet-2011-100562

Cited by 137 publications

(127 citation statements)

References 36 publications

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“…As well, the identification of a single affected family member frequently leads to the diagnosis of a hereditary predisposition in other asymptomatic family members; surveillance can then be offered to these family members before any cancer develops. 19,20 In addition to identifying patients with newly diagnosed RCC who have cancer predisposition syndromes, it is hoped that this guideline will raise awareness of the risk of RCC in patients with associated non-urologic conditions (e.g., dermatologic or respiratory). 8,21 Unfortunately, there are potential harms associated with the identification of hereditary RCC syndromes.…”

Section: Discussionmentioning

confidence: 99%

Canadian guideline on genetic screening for hereditary renal cell cancers

Reaume

Graham

Tomiak

et al. 2013

CUAJ

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Background: Hereditary renal cell cancer (RCC) is an ideal model for germline genetic testing. We propose a guideline of hereditary RCC specific criteria to suggest referral for genetic assessment. Methods: A review of the literature and stakeholder resources for existing guidelines or consensus statements was performed. Referral criteria were developed by expert consensus. Results: The criteria included characteristics for patients with RCC (age ≤45 years, bilateral or multifocal tumours, associated medical conditions and non-clear cell histologies with unusual features) and for patients with or without RCC, but a family history of specific clinical or genetic diagnoses. Conclusions: This guideline represents a practical RCC-specific reference to allow healthcare providers to identify patients who may have a hereditary RCC syndrome, without extensive knowledge of each syndrome. RCC survivors and their families can also use the document to guide their discussions with healthcare providers about their need for referral. The criteria refer to the most common hereditary renal tumour syndromes and do not represent a comprehensive or exclusive list. Prospective validation of the criteria is warranted.

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Section: Discussionmentioning

confidence: 99%

Canadian guideline on genetic screening for hereditary renal cell cancers

Reaume

Graham

Tomiak

et al. 2013

CUAJ

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“…14 In our Centre individuals at risk of HD and HBOC are among those kept under long-term follow-up through our genetic family register service. [23][24][25] Another strategy would be to have clinics specifically for younger people and for genetic counsellors to utilise the peer support potential this may offer.…”

Section: Process Of Adjustingmentioning

confidence: 99%

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

et al. 2013

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While debate has focused on whether testing of minors for late onset genetic disorders should be carried out if there is no medical benefit, less is known about the impact on young people (o25 years) who have had predictive testing often many years before the likely onset of symptoms. We looked at the experiences of young people who had had predictive testing for a range of conditions with variable ages at onset and options for screening and treatment. A consecutive series of 61 young people who had a predictive test aged 15-25 years at the Clinical Genetic Service, Manchester, for HD, HBOC (BrCa 1 or 2) or FCM (Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy), were invited to participate. Thirty-six (36/61; 59%) agreed to participate (10 HD, 16 HBOC and 10 FCM) and telephone interviews were audiotaped, transcribed and analysed using Interpretative Phenomenological Analysis. None of the participants expressed regret at having the test at a young age. Participants saw the value of pretest counselling not in facilitating a decision, but rather as a source of information and support. Differences emerged among the three groups in parent/family involvement in the decision to be tested. Parents in FCM families were a strong influence in favour of testing, in HBOC the decision was autonomous but usually congruent with the views of parents, whereas in HD the decision was autonomous and sometimes went against the opinions of parents/grandparents. Participants from all three groups proposed more tailoring of predictive test counselling to the needs of young people.

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“…vHL patients are advised to undergo prophylactic surveillance to facilitate early tumour diagnosis. 1,4 The prevalence of vHL has been reported to be between 1 in 39 000 and 1 in 91 000 individuals in different regional populations, 2,3,5,6 but has never been investigated on a national basis. Based on previous estimates, in the Danish population of ∼ 5.6 million residents (http://www.statistikbanken.dk/statbank5a/ default.asp?w = 1920, accessed 1-6-2016), we would expect between 65 and 140 individuals to have the diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Prevalence, birth incidence, and penetrance of von Hippel–Lindau disease (vHL) in Denmark

et al. 2016

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Von Hippel-Lindau disease (vHL) is a rare hereditary tumour predisposition with multiorgan involvement that is not always easily recognized. The disease is reported to be almost fully penetrant at age 60 years. Previous estimates of vHL prevalence and incidence are all regional and vary widely. Most are 420 years old and prone to selection bias because of inclusion of only clinically affected vHL patients who were diagnosed before genetic testing was available. In an unselected cohort of all known Danish carriers of a disease-causing VHL variant, we assessed vHL penetrance on a national basis. We further used national health registers to identify individuals who fulfilled the clinical diagnostic vHL criteria based on their registered diagnostic codes, but had not been diagnosed with vHL. We also assessed the medical histories of first-degree relatives to identify familial cases. This study gives the first national estimates of vHL prevalence (1 in 46 900 individuals) and birth incidence (1 in 27 300 live births). vHL has been underdiagnosed in Denmark, and as many as 25% of the overall vHL cohort (diagnosed+undiagnosed patients) have a missed diagnosis in spite of fulfilling the international diagnostic criteria. We found an overall penetrance of 87% at age 60 years. When considering only vHL patients who have not attended surveillance, 20% will still be asymptomatic at age 60 years. This should be considered in the context of genetic counselling, especially when assessing the risk of vHL in asymptomatic adult first-degree relatives who are often not genetically tested.

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Life expectancy in hereditary cancer predisposing diseases: an observational study

Cited by 137 publications

References 36 publications

Canadian guideline on genetic screening for hereditary renal cell cancers

Canadian guideline on genetic screening for hereditary renal cell cancers

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

Prevalence, birth incidence, and penetrance of von Hippel–Lindau disease (vHL) in Denmark

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