Familial adenomatous polyposis historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2]
Overview
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.
Historical Perspective
Following are a few important aspects about the historical perspective of familial adenomatous polyposis:
Discovery
- 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]
References
- ↑ Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
- ↑ 2.0 2.1 Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.
- ↑ King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.
- ↑ Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D (1991). "Identification of FAP locus genes from chromosome 5q21". Science. 253 (5020): 661–5. PMID 1651562.