Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis

Morland, Sarah J.; Jiang, Xin; Hitchcock, Andrew; Thomas, Eric J.; Campbell, Ian

doi:10.1002/(sici)1097-0215(19980911)77:6<825::aid-ijc4>3.0.co;2-w

Cited by 44 publications

(10 citation statements)

References 9 publications

(1 reference statement)

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“…Genes involved in signal transduction ( STAT6 , Table IV), malignant transformation ( TP53 , P21 , KRAS , Table IV; BRAF ), apoptosis ( FAS , Table I; FASLG , Table I) and galactose metabolism ( GAL T ,Table IV) have been investigated for a role in endometriosis susceptibility, but no consistent association has been found (Tables I–IV) (Cramer et al ., 1996; Morland et al ., 1998; Hadfield et al ., 1999; Hsieh et al ., 2001c; Stefansson et al ., 2001; Chang et al ., 2002; Lattuada et al ., 2004b; Omori et al ., 2004; Fernandez et al ., 2005; He et al ., 2006; Hsieh and Lin, 2006; Zhao et al ., 2006; Bhanoori et al ., 2007; Vietri et al ., 2007). Two exceptions are the STAT6 3′-UTR 2964G/A polymorphism (Bhanoori et al ., 2007) and the GALT p.N314D polymorphism (Cramer et al ., 1996), which are over-represented among South Indian women and US women with endometriosis, respectively.…”

Section: Resultsmentioning

confidence: 99%

Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis

Tempfer

Simoni

Destenaves

et al. 2008

Human Reproduction Update

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BACKGROUNDEndometriosis has a strong genetic component, and numerous genetic studies have been reported.METHODSWe have systematically reviewed these studies and included 114 in our final selection.RESULTSWe found no consistent evidence linking endometriosis with specific polymorphisms in genes encoding inflammatory mediators, proteins involved in sex steroid metabolism, vascular function and tissue remodelling. Although a number of polymorphisms have been associated with endometriosis in selected populations, the associations have not been independently confirmed, either because only single studies were carried out on these markers/genes or because other studies reported no association. The most solid evidence linking specific polymorphisms to endometriosis came from studies investigating glutathione-S-transferase, a phase II detoxification enzyme. Carriage of the GSTT1 null deletion variant showed consistent association with endometriosis with a 29% increased risk; however, it cannot be excluded that this result was due to publication bias, and this association should be independently confirmed in large-scale, well-designed case–control studies.CONCLUSIONSThe evidence of an association between genetic polymorphisms and endometriosis is weak. Carriage of the GSTT1 null deletion may moderately increase the risk of this disease. We suggest that the methodology of association studies should be improved in order to identify and validate associations in endometriosis.

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Section: Resultsmentioning

confidence: 99%

Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis

Tempfer

Simoni

Destenaves

et al. 2008

Human Reproduction Update

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“…Details of the ovarian tumour cases have been described previously [17,18]. Briefly, cases of ovarian tumours were ascertained from women undergoing primary surgery in hospitals from southern England between 1993–1998.…”

Section: Methodsmentioning

confidence: 99%

A novel duplication polymorphism in the FANCApromoter and its association with breast and ovarian cancer

et al. 2005

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The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region. Methods:We screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer. Results:The duplication allele had a frequency of 0.34 in the normal controls. There was a nonsignificant decrease in the frequency of the duplication allele in breast cancer patients. The frequency of the duplication allele was significantly decreased in ovarian cancer patients. However, when malignant and benign tumours were considered separately, the decrease was only significant in benign tumours. Conclusion:The allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer.

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“…The comparison with published results (11,16,18,33,34,35) is summarized in Tables 2 and 3. The frequencies in the German population are significantly higher (p< 0.05) (14.9% for N314D and 9.7% for IVS5-24G>A) than in Slovenian and other Caucasian populations.…”

Section: Frequencies Of N314d Mutation and Ivs5-24g>a Intron Variationmentioning

confidence: 82%

Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population

Lukac-Bajalo¹,

Marc²,

Mlinar³

et al. 2002

Clinical Chemistry and Laboratory Medicine

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Numerous mutations in the galactose-1-phosphate uridyl transferase (GALT) gene have been found to impair GALT activity to different extent, causing galactosemia. This disorder exhibits considerable allelic heterogeneity in different populations and ethnic groups. The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population. Individuals homoallelic for Q188R have a severe phenotype with complete loss of enzyme activity. Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2). Although heterozygotes for classical galactosemia are asymptomatic at birth and Duarte galactosemia appears to be quite benign, there are some indications that these disorders can increase the risk of developing certain diseases later in life. The aim of our study was to analyze a healthy Slovenian population for the frequencies of Q188R and N314D mutations, and for the Duarte-2 indicative intronic variation IVS5-24G>A. DNA samples from 174 healthy subjects were analyzed for all three mutations by polymerase chain reaction and digestion with restriction enzymes. Allele frequencies for Q188R and N314D mutations and IVS5-24G>A intron variation were found to be 0.29%, 8.0% and 5.7%, respectively. These results correlate well with those reported for most other healthy Caucasian populations.

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Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis

Cited by 44 publications

References 9 publications

Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis

Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis

A novel duplication polymorphism in the FANCApromoter and its association with breast and ovarian cancer

Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population

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