No evidence of increased risk of colorectal cancer in individuals heterozygous for the Cys282Tyr haemochromatosis mutation

Background and Aims : Previous studies have suggested that increased body iron stores and heterozygosity for haemochromatosis are associated with an increased risk of colorectal carcinoma. The aim of this study is to determine if there is an association between (i) colorectal carcinoma and heterozyg...

Full description

Saved in:
Bibliographic Details
Published in:Journal of gastroenterology and hepatology 1999-12, Vol.14 (12), p.1188-1191
Main Authors: Macdonald, Graeme A, Tarish, Jabsar, Whitehall, Vicki Jl, M, Sally J, Mellick, George D, Buttenshaw, Ron L, Johnson, Anthony G, Young, Joanne, Leggett, Barbara A
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Chi-Square Distribution
colorectal cancer
Colorectal Neoplasms - genetics
Cys282Tyr mutation
Cysteine - genetics
Electrophoresis, Polyacrylamide Gel
Female
Gastroenterology. Liver. Pancreas. Abdomen
Genes, MHC Class I
haemochromatosis
Hemochromatosis - genetics
Hemochromatosis Protein
Heterozygote
heterozygous
Histocompatibility Antigens Class I - genetics
HLA Antigens - genetics
Humans
Male
Medical sciences
Membrane Proteins
Mutation
Polymerase Chain Reaction
Risk Factors
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tropical medicine
Tumors
Tyrosine - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background and Aims : Previous studies have suggested that increased body iron stores and heterozygosity for haemochromatosis are associated with an increased risk of colorectal carcinoma. The aim of this study is to determine if there is an association between (i) colorectal carcinoma and heterozygosity for the Cys282Tyr mutation of the haemochromatosis gene (HFE) and (ii) this mutation and tumour site or stage. Methods : Two hundred and twenty‐nine unselected patients (127 males, 102 females, mean age 68.0 years) with sporadic colorectal carcinoma and 228 controls (145 males, 83 females, mean age 69.7 years) were studied. DNA was tested for the presence of the Cys282Tyr mutation by digestion with Rsa1 and fragments separated by electrophoresis. Results : Twenty‐one patients with colorectal cancer and 23 control subjects were heterozygous for the Cys282Tyr mutation of HFE (relative risk 0.90). There was no association between heterozygosity of the Cys282Tyr mutation and tumour site or stage. Conclusions : Heterozygosity for the Cys282Tyr mutation of HFE does not appear to be a risk factor for colorectal carcinoma. © 1999 Blackwell Science Asia Pty Ltd
ISSN:0815-9319
1440-1746
DOI:10.1046/j.1440-1746.1999.02027.x