
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions β written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Familial adenomatous polyposis historical perspective
Introduction
Overview
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
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 ofΒ 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
References
- β 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): 208β13. PMCΒ 2594024. PMIDΒ 11446392.
- β 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): 153β161. doi:10.1016/j.critrevonc.2006.07.004. ISSNΒ 1040-8428.
- β 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): 57β67. doi:10.4065/75.1.57. ISSNΒ 0025-6196.
- β 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): 661β5. PMIDΒ 1651562.
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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]
