Familial adenomatous polyposis historical perspective

Familial adenomatous polyposis was first described in 1726 by Menzelio. After 150 years, in 1882, familial nature of the multiple colonic polyposis was reported. Inheritance predisposition was identified in 1925. Gardner’s syndrome was first described in 1950 by Gardner and Stephens. Bussey described clinical features and natural history of familial adenomatous polyposis in 1975. In 1986, genetic abnormality was discovered by Herrera. In 1991, APC gene defect was identified as one of the causes of familial adenomatous polyposis.

Following are a few important aspects about the historical perspective of familial adenomatous polyposis:

• In 1726, Menzelio described multiple polyps of the large bowel clinically.^[1]
• In 1847, familial adenomatous polyposis was first described.^[2]
• In 1882, Cripps reported the familial nature of multiple colonic polyposis.
• In 1925, Lockhart-Mummery suggested an inheritance predisposition for multiple colonic polyposis.
• During 1930s, Cuthbert Dukes created the first register at St. Mark’s Hospital in London and collected data for screening of relatives of patients with polyposis.
• In the 1950s, Gardner and Stephens described a syndrome with colonic and extracolonic features, including soft tissue and bone tumors which is known as Gardner’s syndrome.
• In 1975, Bussey described the clinical characteristics and natural history of familial adenomatous polyposis.^[2]
• In 1986, Herrera discovered genetic abnormality in patient with multiple colorectal polyps.
• In 1987, Leppert mapped gene for FAP to the long arm of chromosome 5.^[3]
• In 1991, the association between mutation of the APC gene (chromosome 5q21-22) and familial adenomatous polyposis was made.^[4]

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