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Life expectancy in hereditary cancer predisposing diseases: an observational study
Anna Wilding1, Sarah Louise Ingham, Fiona Lalloo
1Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary’s Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK.
Journal of Medical Genetics
|February 25, 2012
Summary
Life expectancy is reduced for five genetic tumor predisposition syndromes. Early diagnosis through genetic registers improves survival, particularly for Von Hippel-Lindau syndrome, though further improvements are needed.
Area of Science:
- Genetics
- Oncology
- Public Health
Background:
- Five single-gene disorders (NF1, NF2, FAP, VHL, GS) predispose to early-onset tumors.
- Limited research exists on the impact of these genetic conditions on patient life expectancy.
- This study investigates the effect of these syndromes on survival and the role of genetic registers.
Purpose of the Study:
- To assess the impact of Neurofibromatosis 1 (NF1), Neurofibromatosis 2 (NF2), Familial Adenomatous Polyposis (FAP), Von Hippel-Lindau syndrome (VHL), and Gorlin syndrome (GS) on life expectancy.
- To evaluate whether diagnosis via genetic registers improves survival rates for patients with these conditions.
Main Methods:
- Patients with NF1, NF2, VHL, FAP, and GS were identified using regional genetic and cancer intelligence services.
- Kaplan-Meier curves and Log rank (Mantel-Cox) tests were employed to compare survival rates.
- Survival was analyzed in relation to the general population and by comparing patients diagnosed before and after the establishment of a genetic register.
Main Results:
- All five investigated genetic diseases showed significantly reduced life expectancies compared to the general population.
- Gorlin syndrome (GS) had the longest life expectancy (73.4 years), while Von Hippel-Lindau syndrome (VHL) had the shortest (52.5 years).
- Patients diagnosed after the genetic register's establishment exhibited increased survival: NF2 (14.7 years), FAP (13.9 years), VHL (16.3 years), and GS (11.2 years).
Conclusions:
- Life expectancy for all five genetic tumor predisposition syndromes remains lower than the general population.
- Improvements in survival have been observed, potentially linked to targeted care facilitated by genetic registers.
- Significant disparities persist, particularly the very poor life expectancy associated with VHL, necessitating further intervention.
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