PMID- 15334541
OWN - NLM
STAT- MEDLINE
DCOM- 20041025
LR  - 20101118
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 41
IP  - 3
DP  - 2004 Nov
TI  - Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic 
      linkage analysis and FISH studies.
PG  - 183-90
AB  - Recently, germline mutations of the fumarate hydratase (FH) gene, in 1q42.1, have 
      been found to be involved in syndromes associated with uterine leiomyomas (ULs). 
      Compelling evidence also supports a genetic liability to develop nonsyndromic UL, 
      although susceptibility genes have not been reported to date. Loss of 
      heterozygosity (LOH) studies have found no or rare evidence of LOH of FH in 
      nonsyndromic UL. However, the karyotypes of these tumors were not reported, and 
      cytogenetic aberrations of 1q42-44 have been observed infrequently in UL. To 
      determine whether FH mutations also may predispose women to developing 
      nonsyndromic UL, we performed a genetic linkage study with DNA from 123 families 
      containing at least one affected sister pair. In addition, to assess the 
      frequency of FH loss specifically in UL with 1q rearrangements, we performed a 
      fluorescence in situ hybridization (FISH) analysis of UL with 1q rearrangements. 
      Analysis of the genotyping data revealed evidence suggestive of linkage to the FH 
      region among study participants who were less than 40 years of age at diagnosis 
      (Zlr 1.7 at D1S547, P = 0.04). FISH results showed that one copy of FH was absent 
      in 9 of 11 ULs. These data indicate that loss of FH might be a significant event 
      in the pathogenesis of a subset of nonsyndromic ULs.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Gross, Karen L
AU  - Gross KL
AD  - Department of Pathology, University of Vermont, Burlington, Vermont, USA.
FAU - Panhuysen, Carolien I M
AU  - Panhuysen CI
FAU - Kleinman, Michael S
AU  - Kleinman MS
FAU - Goldhammer, Hilary
AU  - Goldhammer H
FAU - Jones, Emlyn S
AU  - Jones ES
FAU - Nassery, Najlla
AU  - Nassery N
FAU - Stewart, Elizabeth A
AU  - Stewart EA
FAU - Morton, Cynthia C
AU  - Morton CC
LA  - eng
SI  - OMIM/150800
SI  - OMIM/605839
GR  - CA78895/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA Primers)
RN  - 9007-49-2 (DNA)
RN  - EC 4.2.1.2 (Fumarate Hydratase)
SB  - IM
MH  - Adult
MH  - Age Factors
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 1
MH  - DNA/metabolism
MH  - DNA Primers/metabolism
MH  - Family Health
MH  - Female
MH  - Fumarate Hydratase/*genetics/*physiology
MH  - *Genetic Linkage
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Germ-Line Mutation
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leiomyoma/*enzymology
MH  - Loss of Heterozygosity
MH  - Middle Aged
MH  - Mutation
MH  - Uterine Neoplasms/*enzymology
EDAT- 2004/08/31 05:00
MHDA- 2004/10/27 09:00
CRDT- 2004/08/31 05:00
PHST- 2004/08/31 05:00 [pubmed]
PHST- 2004/10/27 09:00 [medline]
PHST- 2004/08/31 05:00 [entrez]
AID - 10.1002/gcc.20079 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2004 Nov;41(3):183-90. doi: 10.1002/gcc.20079.