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Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Authors Evans DGR, Ingham SL

Received 30 April 2013

Accepted for publication 8 June 2013

Published 24 July 2013 Volume 2013:6 Pages 53—61

DOI https://doi.org/10.2147/TACG.S35605

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3


D Gareth R Evans,1 Sarah Louise Ingham2

1Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary's Hospital, Manchester, UK; 2Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester, UK

Abstract: There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel–Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2. Understanding of the mortality in hereditary cancer predisposing diseases is important for developing effective disease treatment programs. A number of studies have been undertaken to investigate the genetic predictors, prevalence and incidence, and treatment outcomes of these diseases; however, the majority examine only the most common of these diseases (eg, neurofibromatosis or BRCA), or look into postoperative survival. The mortality of individuals who are diagnosed with one of these hereditary diseases remains an area for investigation. This review is the first to attempt identification of studies investigating life expectancy in hereditary diseases which predispose to early-onset tumors.

Keywords: mortality, survival, life expectancy, early-onset, tumors

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