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Molecular Diagnostics pp 375–392Cite as

Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer

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Abstract

Hereditary nonpolyposis colorectal cancer is a tumor predis– position syndrome characterised by a propensity to develop, typically, but by no means exclusively, young‐onset colorectal and other cancers (1). The condition was first described in 1913 by the US pathologist Warthin in a comprehensive survey of familial cancer (2). He was stimulated to make this study because his seamstress was depressed at the thought of dying prematurely from bowel or womb cancer, as had many of her relatives. She was a member of Family “ G” in his original arti–cle, which incidentally contains examples of most of the cancer genetic conditions recognized today (2). Family “G” was redis– covered in the 1960s by Lynch, although it was not at first real-ized that it was one of Warthins original families (3,4). Lynch later made a distinction between families with only bowel can– cer (Lynch syndrome type 1: site‐specific colorectal cancer) and families with several types of cancer, including bowel (Lynch syndrome type 2: family cancer syndrome). Given the propensity to bowel cancer, but without the polyposis charac– teristic of familial adenomatous polyposis (FAP), the all embracing term “hereditary nonpolyposis colorectal cancer” (HNPCC) is now used (1). However, having to explain all this in the clinic makes the idea of going back to calling it Lynch or family cancer syndrome rather attractive.

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Authors and Affiliations

  1. Clinical Genetics Laboratory, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK

    Ian M. Frayling

  2. Department of Histopathology, Addenbrooke’s Hospital, Cambridge, UK

    Lisa Happerfield

  3. National Genetics Reference Laboratory, Salisbury District Hospital, Salisbury, UK

    Christopher Mattocks

  4. East Anglian Regional Genetics Service, Molecular Genetics Laboratory, Addenbrooke’s Hospital, Cambridge, UK

    Kim Oakhill

  5. Department of Pathology, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK

    Mark J. Arends

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  1. Ian M. Frayling
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  2. Lisa Happerfield
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  3. Christopher Mattocks
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  4. Kim Oakhill
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  5. Mark J. Arends
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA

    William B. Coleman

  2. Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

    Gregory J. Tsongalis

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© 2006 Humana Press, a part of Springer Science+Business Media, LLC

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Frayling, I.M., Happerfield, L., Mattocks, C., Oakhill, K., Arends, M.J. (2006). Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer. In: Coleman, W.B., Tsongalis, G.J. (eds) Molecular Diagnostics. Humana Press. https://doi.org/10.1385/1-59259-928-1:375

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  • DOI: https://doi.org/10.1385/1-59259-928-1:375

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