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Life expectancy in hereditary cancer predisposing diseases: an observational study
  1. Anna Wilding1,
  2. Sarah Louise Ingham1,2,
  3. Fiona Lalloo1,
  4. Tara Clancy1,
  5. Susan M Huson1,
  6. Anthony Moran3,
  7. D Gareth Evans1,3
  1. 1Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary's Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK
  2. 2Health Sciences, School of Community Based Medicine, Jean McFarlane Building, The University of Manchester, Oxford Road, Manchester, UK
  3. 3North West Cancer Intelligence Service, Christie NHS Foundation Trust, Manchester, UK
  1. Correspondence to Professor Gareth Evans, Manchester Academic Health Science Centre, Genetic Medicine, St Mary's Hospital, Central Manchester Hospitals Foundation Trust, Manchester M13 9WL, UK; gareth.evans{at}cmft.nhs.uk

Abstract

Background Neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), familial adenomatous polyposis (FAP), von Hippel-Lindau syndrome (VHL), and Gorlin syndrome (GS) are single gene diseases that predispose to early onset tumours. Few studies have assessed the effect of these diseases on life expectancy. This study's aim was to assess this effect, and to test the hypothesis that genetic registers increase survival.

Method NF1, NF2, VHL, FAP, and GS patients were identified through the North West Regional Genetic Register Service and the North West Cancer Intelligence Service. Information on benign and malignant tumours, and deaths were obtained. Kaplan–Meier curves were used to show actuarial survival rates for each disease, compared to the local population, and in patients diagnosed pre/post the regional genetic register. Log rank (Mantel–Cox) tests were used to compare survival between groups.

Results Life expectancies were significantly reduced for all diseases investigated compared with the local population (80.0 years) (p=0.05). GS had the longest life expectancy at 73.4 years, followed by NF1 at 71.5 years, NF2 at 69.0 years, FAP at 63.6 years, and VHL at 52.5 years. Patients diagnosed after establishment of the genetic register had an increase in survival compared to those diagnosed pre-1990: NF2 (14.7 years), FAP (13.9 years), VHL (16.3 years), and GS (11.2 years).

Conclusion Life expectancy for all five diseases was less than normal, although in recent years this reached the level of the local population in GS. Although there have been improvements in all conditions which may in part be attributable to better targeted care through the genetic register service, more needs to be done to address the very poor life expectancy in VHL.

  • Survival
  • neurofibromatosis
  • von-Hippel-Lindau syndrome
  • familial adenomatous polyposis
  • Gorlin syndrome
  • hereditary disease
  • genetics
  • epidemiology
  • genetic epidemiology
  • clinical genetics
  • genetic screening/counselling
  • cancer: breast
  • prevention
  • cancer: CNS
  • cancer: colon
  • genetic epidemiology
  • oncology

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Footnotes

  • Funding This study was unfunded research. The sponsor of this study is Central Manchester Foundation Trust. This sponsor had no role in the study design, in the collection, analysis, and interpretation of the data, in the writing of this report, or in the decision to submit this report for publication. The guarantor for this submitted work is Professor Gareth Evans.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data Sharing Statement The authors agree to share these data.

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