Episode 81: Familial Adenomatous Polyposis (FAP)

In 1924, a surgeon and a pathologist had a conversation about some patients with multiple bowel polyps. The pathologist, Dr Cuthbert Dukes, and the surgeon, Mr JP Lockhart-Mummery, noted that patients had a family history of bowel cancer and could have hundreds of colonic polyps. They, with the help of HRJ Bussey, set up the Polyposis Registry.

The registry collected information about these patients and the families from 1918 to 1954. They found that patients developed polyps in childhood, the risk of affected children was 50%, and cancer took 15 years to develop from first diagnosis. This was clearly a familial disease.

Today, we know this a Familial Adenomatous Polyposis or FAP. The genetic basis for this condition was identified in the 1980s and 1990s. Professor Sir Walter Bodmer led a team to map the location of the Adenomatous Polyposis Coli (APC) gene involved.

This is the story of Familial Adenomatous Polyposis (FAP)

Our special guests:

Professor Sir Walter Bodmer is a professor of the Cancer and Genetics laboratory and Department of Oncology at Oxford University. Areas of research include: HLA, population genetics, Human Genome Project, and mapped the APC gene. He was knighted in 1986.

Dr Tristan Rutland is an Anatomical Pathologists, recipient of the Konrad Muller RCPA Outstanding Teaching Award (2020), and recipient of the Resident Advocate Award from the College of American Pathologists.

Dr Emelia Ip is a trained medical oncologist, staff specialist in cancer genetics, and co-chair of EviQ Adult Cancer Genetics Reference Committee.

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