Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Variants in genes involved in estrogen biosynthesis are likely to be important in the etiology of endometrial cancer. This review summarizes data on variants in seven genes in the estrogen biosynthesis pathway and their relation to circulating levels of sex steroid hormones in women and to risk of endometrial cancer. Little or no association was found between genotypes of the cytochrome P-450 genes CYP11A1 (-528[TTTTA]n) or CYP17A1 (-34T/C) or the 17beta-hydroxysteroid dehydrogenase 1 gene HSD17B1 (Ser312Gly) and levels of progesterone, androgens, or estrogens. The position -34T/C variant in CYP17A1 appears to be associated with reduced risk of endometrial cancer, with those homozygous for the variant allele having about half the risk of those homozygous for the wild type. Linked variants in CYP19A1 (intron 4 [TTTA]n, intron 4 [TCT] insertion/deletion, exon 10 C/T) are related to some hormone levels and, based on two studies, to risk of endometrial cancer. For other genes (HSD3B1, HSD3B2, HSD17B2), no information is available on these associations. Results indicate the need to study other variants and haplotypes in these genes, particularly CYP17A1 and CYP19A1, as well as variants in other genes involved in hormone biosynthesis and metabolism pathways. Larger studies or combined studies that allow for investigation of gene-gene and gene-environment interactions are warranted.
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PMID:Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: a HuGE review. 1711 Jun 39

We investigated the risk associated with variants in three genes involved in estrogen biosynthesis, CYP11A1, CYP17A1, and CYP19A1, in the population-based case-control study of Estrogen, Diet, Genetics, and Endometrial Cancer. This study was conducted in New Jersey in 2001-2006 with 417 cases and 402 controls. For CYP11A1, there was no association between the number of [TTTTA]( n ) repeats (D15S520) and risk. For CYP17A1, risk was somewhat lower among women with the C/C genotype at T-34C (rs743572) (adjusted OR = 0.65, 95% CI 0.41-1.02). For CYP19A1, risk was lower among women homozygous for the 3-bp deletion (rs11575899) in exon 4 (adjusted OR = 0.44, 95% CI 0.26-0.76), while the number of [TTTA]( n ) repeats was not significantly related to risk: the adjusted OR for n = 7/7 repeats versus n > 7/>7 repeats was 0.81 (95% CI 0.54-1.23). In stratified analyses, results for CYP19A1 were stronger among women with higher (> or =27.4) body mass index: for the homozygous deletion, OR = 0.30 (95% CI 0.15-0.62); for the n = 7/7 genotype, OR = 0.49 (95% CI 0.26-0.93). The interaction between the n = 7/7 genotype and BMI was statistically significant (p = 0.01). The insertion/deletion variant in CYP19A1 appears to be related to risk of endometrial cancer; risk associated with variants in this gene may vary according to BMI.
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PMID:Variants in hormone biosynthesis genes and risk of endometrial cancer. 1843 11

Pancreatic cancer is the fourth leading cause of cancer-related death in men and women in the United States. Reproductive factors and steroid hormones have been suspected risk factors for many years, but the results from epidemiologic studies to date have been inconclusive. CYP17A1 encodes cytochrome P450c17alpha, an enzyme with 17alpha-hydroxylase and 17,20-lyase activities in estradiol biosynthesis. A polymorphism in the 5'UTR promoter region of CYP17A1-34T/C(A1/A2) has been associated with circulating estrogens in premenopausal women and with susceptibility to breast, prostate, and endometrial cancer. Questionnaire data and germline DNA collected in a San Francisco Bay Area population-based case-control study of pancreatic cancer (cases = 532, controls = 1701) were used to conduct analyses of pancreatic cancer susceptibility related to the CYP17A1 polymorphism and whether effects associated with smoking and reproductive risk factors were modified by this polymorphism. Mass spectrometry- and TaqMan-based methods were used to determine CYP17A1 genotypes in DNA samples from 308 cases and 964 controls. Results showed that carriers of the A2 allele (vs. A1/A1) were significantly less likely to have been diagnosed with pancreatic cancer (A1/A2, adjusted odds ratio (OR) = 0.77, 95% confidence interval (CI) = 0.58-1.0; A2/A2, OR = 0.63, 95%CI = 0.42-0.93; p-trend = 0.01). ORs for CYP17A1 genotypes did not differ by sex, but the observed inverse association was stronger in postmenopausal women. ORs for smoking and pancreatic cancer were not modified by CYP17A1 genotype. Our results suggest that the CYP17A1 A2 allele may be associated with a lower risk of pancreatic cancer in both men and women.
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PMID:Genetic variation in CYP17A1 and pancreatic cancer in a population-based case-control study in the San Francisco Bay Area, California. 1964 97

The association between CYP17A1 T-34C polymorphism and endometrial cancer risk has been inconsistent and underpowered. To clarify the effect of CYP17A1 T-34C polymorphism on the risk of endometrial cancer, a meta-analysis of all available studies relating CYP17A1 T-34C polymorphism to the risk of endometrial cancer was conducted. The authors searched PubMed, EMBASE, Scopus, and VisionCite databases updated on March 2013. Data were extracted by two independent authors and pooled odds ratio (OR) with 95 % confidence interval (CI) was calculated. Finally, seven studies with 1,570 endometrial cancer cases and 2,474 controls were included in the meta-analysis. There was no statistically significant association between CYP17A1 T-34C polymorphism and endometrial cancer under heterogeneous codominant model (OR = 0.91, 95 %CI = 0.68-1.21). Although CYP17A1 T-34C polymorphism was marginally associated with endometrial cancer risk under homogeneous codominant model (OR = 0.69, 95 %CI = 0.49-0.99), the significant association was not stable after sensitivity analysis. We concluded that CYP17A1 T-34C polymorphism might not be one risk factor in the carcinogenesis of endometrial cancer. Further large and well-designed studies are needed to confirm this association.
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PMID:CYP17A1 T-34C polymorphism is not associated with endometrial cancer risk. 2360 33