Familial polyposis coli

Heterogeneous polyp expression in 2 kindreds

Henry T. Lynch, P. M. Lynch, K. L. Follett, R. E. Harris

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

The authors describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli (FPC), but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps. In one family, 2 individuals had diffuse polyposis at very early ages (7 and 10 years), while 6 others (aged 23 to 72 years) had solitary polyps only. Of the patients with solitary polyps, 2 had associated colonic malignancies (ages 26 and 35), while another had a prophylactic colectomy performed at age 46. In the second family, 5 of the 11 patients with evidence of polyps showed the classical presentation of FPC, while the remainder showed marked phenotypic variation. The marked variability in frequency and location of colon polyps points to the need to reassess our traditional criteria for diagnosis of FPC. The high risk of early onset colon cancer in patients from these families who have the most minimal manifestation, namely isolated polyps, recommends more careful scrutiny of supposedly unaffected members of all FPC kindreds.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalJournal of Medical Genetics
Volume16
Issue number1
StatePublished - 1979

Fingerprint

Adenomatous Polyposis Coli
Polyps
Adenomatous Polyps
Colectomy
Colonic Neoplasms
Colon
Neoplasms

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Lynch, H. T., Lynch, P. M., Follett, K. L., & Harris, R. E. (1979). Familial polyposis coli: Heterogeneous polyp expression in 2 kindreds. Journal of Medical Genetics, 16(1), 1-7.

Familial polyposis coli : Heterogeneous polyp expression in 2 kindreds. / Lynch, Henry T.; Lynch, P. M.; Follett, K. L.; Harris, R. E.

In: Journal of Medical Genetics, Vol. 16, No. 1, 1979, p. 1-7.

Research output: Contribution to journalArticle

Lynch, HT, Lynch, PM, Follett, KL & Harris, RE 1979, 'Familial polyposis coli: Heterogeneous polyp expression in 2 kindreds', Journal of Medical Genetics, vol. 16, no. 1, pp. 1-7.
Lynch, Henry T. ; Lynch, P. M. ; Follett, K. L. ; Harris, R. E. / Familial polyposis coli : Heterogeneous polyp expression in 2 kindreds. In: Journal of Medical Genetics. 1979 ; Vol. 16, No. 1. pp. 1-7.
@article{563b0e0199934c8eb83f1a57816dd866,
title = "Familial polyposis coli: Heterogeneous polyp expression in 2 kindreds",
abstract = "The authors describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli (FPC), but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps. In one family, 2 individuals had diffuse polyposis at very early ages (7 and 10 years), while 6 others (aged 23 to 72 years) had solitary polyps only. Of the patients with solitary polyps, 2 had associated colonic malignancies (ages 26 and 35), while another had a prophylactic colectomy performed at age 46. In the second family, 5 of the 11 patients with evidence of polyps showed the classical presentation of FPC, while the remainder showed marked phenotypic variation. The marked variability in frequency and location of colon polyps points to the need to reassess our traditional criteria for diagnosis of FPC. The high risk of early onset colon cancer in patients from these families who have the most minimal manifestation, namely isolated polyps, recommends more careful scrutiny of supposedly unaffected members of all FPC kindreds.",
author = "Lynch, {Henry T.} and Lynch, {P. M.} and Follett, {K. L.} and Harris, {R. E.}",
year = "1979",
language = "English",
volume = "16",
pages = "1--7",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "1",

}

TY - JOUR

T1 - Familial polyposis coli

T2 - Heterogeneous polyp expression in 2 kindreds

AU - Lynch, Henry T.

AU - Lynch, P. M.

AU - Follett, K. L.

AU - Harris, R. E.

PY - 1979

Y1 - 1979

N2 - The authors describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli (FPC), but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps. In one family, 2 individuals had diffuse polyposis at very early ages (7 and 10 years), while 6 others (aged 23 to 72 years) had solitary polyps only. Of the patients with solitary polyps, 2 had associated colonic malignancies (ages 26 and 35), while another had a prophylactic colectomy performed at age 46. In the second family, 5 of the 11 patients with evidence of polyps showed the classical presentation of FPC, while the remainder showed marked phenotypic variation. The marked variability in frequency and location of colon polyps points to the need to reassess our traditional criteria for diagnosis of FPC. The high risk of early onset colon cancer in patients from these families who have the most minimal manifestation, namely isolated polyps, recommends more careful scrutiny of supposedly unaffected members of all FPC kindreds.

AB - The authors describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli (FPC), but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps. In one family, 2 individuals had diffuse polyposis at very early ages (7 and 10 years), while 6 others (aged 23 to 72 years) had solitary polyps only. Of the patients with solitary polyps, 2 had associated colonic malignancies (ages 26 and 35), while another had a prophylactic colectomy performed at age 46. In the second family, 5 of the 11 patients with evidence of polyps showed the classical presentation of FPC, while the remainder showed marked phenotypic variation. The marked variability in frequency and location of colon polyps points to the need to reassess our traditional criteria for diagnosis of FPC. The high risk of early onset colon cancer in patients from these families who have the most minimal manifestation, namely isolated polyps, recommends more careful scrutiny of supposedly unaffected members of all FPC kindreds.

UR - http://www.scopus.com/inward/record.url?scp=0018344539&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018344539&partnerID=8YFLogxK

M3 - Article

VL - 16

SP - 1

EP - 7

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 1

ER -