PMID- 10634155
OWN - NLM
STAT- MEDLINE
DCOM- 20000210
LR  - 20190831
IS  - 0815-9319 (Print)
IS  - 0815-9319 (Linking)
VI  - 14
IP  - 12
DP  - 1999 Dec
TI  - No evidence of increased risk of colorectal cancer in individuals heterozygous 
      for the Cys282Tyr haemochromatosis mutation.
PG  - 1188-91
AB  - 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.
FAU - Macdonald, G A
AU  - Macdonald GA
AD  - Department of Medicine, The University of Queensland, Queensland Institute of 
      Medical Research, Brisbane, Australia. g.macdonald@medicine.herston.uq.edu.au
FAU - Tarish, J
AU  - Tarish J
FAU - Whitehall, V J
AU  - Whitehall VJ
FAU - McCann, S J
AU  - McCann SJ
FAU - Mellick, G D
AU  - Mellick GD
FAU - Buttenshaw, R L
AU  - Buttenshaw RL
FAU - Johnson, A G
AU  - Johnson AG
FAU - Young, J
AU  - Young J
FAU - Leggett, B A
AU  - Leggett BA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - J Gastroenterol Hepatol
JT  - Journal of gastroenterology and hepatology
JID - 8607909
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
RN  - 42HK56048U (Tyrosine)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Aged
MH  - Chi-Square Distribution
MH  - Colorectal Neoplasms/*genetics
MH  - Cysteine/genetics
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - *Genes, MHC Class I
MH  - HLA Antigens/*genetics
MH  - Hemochromatosis/*genetics
MH  - Hemochromatosis Protein
MH  - Heterozygote
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Male
MH  - *Membrane Proteins
MH  - Mutation
MH  - Polymerase Chain Reaction
MH  - Risk Factors
MH  - Tyrosine/genetics
EDAT- 2000/01/14 00:00
MHDA- 2000/01/14 00:01
CRDT- 2000/01/14 00:00
PHST- 2000/01/14 00:00 [pubmed]
PHST- 2000/01/14 00:01 [medline]
PHST- 2000/01/14 00:00 [entrez]
AID - 10.1046/j.1440-1746.1999.02027.x [doi]
PST - ppublish
SO  - J Gastroenterol Hepatol. 1999 Dec;14(12):1188-91. doi: 
      10.1046/j.1440-1746.1999.02027.x.