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- PMID: 23935382
- UKPMCID: 23935382
- DOI: 10.2147/TACG.S35605
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Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors.
Evans, D Gareth R; Ingham, Sarah Louise
The application of clinical genetics. 2013;6:53-61.
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Full-text held externally
- PMID: 23935382
- UKPMCID: 23935382
- DOI: 10.2147/TACG.S35605
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.