Family History of Bowel Cancer?, Guest Blog, Information for Health Professionals, Lynch Syndrome, Polyposis

Guest Blog: Wellcome Witnesses to Contemporary Medicine series, ‘Clinical Cancer Genetics: Polyposis and Familial Colorectal Cancer c.1975–c.2010’.


Polyposis (carpeting a rectum after a previous ileocolonic anastamosis)

Polyposis (carpeting a rectum after a previous ileocolonic anastamosis)

A history of polyposis and familial colorectal cancer

(Link to full article can be found here)

On the 25 September 2012 a meeting was held in Central London, convened by the History of Modern Biomedicine Research Group of Queen Mary, University of London, and funded by the Wellcome Trust.   Assembled were many of the men and women whose research was at the forefront of the breakthroughs that led to the identification of genes for familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC) (Lynch Syndrome) in the 1990s.

One of the most significant locations for early research into hereditary bowel cancer was St Mark’s Hospital in London, where surgeon John Percy Lockhart-Mummery (1875–1957) and pathologist Dr Cuthbert Dukes (1890–1977) were based. As Ms Kay Neale explained: ‘St Mark’s Polyposis Registry started in 1924 as a result of John Percy Lockhart-Mummery having an interest in family diseases and Dr Dukes having an interest in polyps turning into cancer.’ The Registry’s success was helped enormously by the work of Dick (later Dr) Bussey, who, aged just 17, started a meticulous system for recording patients with  FAP, a condition that had first been noted in the medical literature as early as 1882. Neale elaborated on the spread of the Registry’s impact beyond the UK: ‘Dukes, of course, would lecture and publish in the journals of the day and so people would send pathological slides or descriptions of cases of polyposis from all over the world, and Dr Bussey would record them all and catalogue them.’ Fast forward to the 1980s when Sir Walter Bodmer became Director of Research at the Imperial Cancer Research Fund (ICRF) and, during the meeting, he recalled how in 1984 he established a St Mark’s Unit at the ICRF for all aspects of colorectal cancer, as research in familial cancer began to take more shape.  The context for this growth in familial cancer research during the 1980s is discussed by Professor Tim Bishop in his introduction to the publication, along with several seminar participants who reflect on the work of the UK’s Cancer Family Study Group.

Representing a transatlantic viewpoint, Professor Jane Green from Canada moved the story into the 1990s and to HNPCC. A world away from the research lab, she tried to find familial links amongst cancer patients: ‘I spent many hours on roads in Newfoundland going to different small communities and talking to people in their homes. Every time somebody said, I’ll speak to my grandmother because she knows more of the history,’ or ‘You need to know about that other part of the family’ and they would contact them … As I put the pedigrees together they were very, very interesting.’  Her informal conversations revealed linkages, the understanding of which would be critical to the international effort that identified the MSH2 and MLH1 HNPCC-related genes in 1993. Like Jane Green’s families, patients from St Mark’s Polyposis Register were critical in providing DNA samples that helped identify APC, the gene for polyposis in 1991.

These and many other stories from the scientists, clinicians and others  involved in this significant research can be read in more depth in the published, annotated transcript of this Witness Seminar.  This volume is free to download from the Group’s website as a PDF document.

http://www.history.qmul.ac.uk/research/modbiomed/wellcome_witnesses/vol46/

Emma M Jones, Alan Yabsley

History of Modern Biomedicine Research Group
Queen Mary, University of London
Mile End Road
London E1 4NS
United Kindom
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About kjmonahan

Service lead for Family History of Bowel Cancer Clinic

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