Variants in hormone biosynthesis genes and risk of endometrial cancer Journal Article


Authors: Olson, S. H.; Orlow, I.; Bayuga, S.; Sima, C.; Bandera, E. V.; Pulick, K.; Faulkner, S.; Tommasi, D.; Egan, D.; Roy, P.; Wilcox, H.; Ali, A.; Modica, I.; Asad, H.; Soslow, R.; Zauber, A. G.
Article Title: Variants in hormone biosynthesis genes and risk of endometrial cancer
Abstract: 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 (≥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. © 2008 Springer Science+Business Media B.V.
Keywords: adult; controlled study; aged; aged, 80 and over; middle aged; gene mutation; major clinical study; exon; gene deletion; case-control studies; polymorphism, single nucleotide; cancer risk; endometrial cancer; endometrial neoplasms; endometrium cancer; genetic predisposition to disease; genetic variability; genotype; odds ratio; homozygosity; body mass; body mass index; promoter regions, genetic; epidemiology; tumor gene; aromatase; hormone synthesis; microsatellite repeats; cyp19a1; cyp11a1; cyp17a1; gene insertion sequence; cholesterol side-chain cleavage enzyme; steroid 17-alpha-hydroxylase
Journal Title: Cancer Causes & Control
Volume: 19
Issue: 9
ISSN: 0957-5243
Publisher: Springer  
Date Published: 2008-11-01
Start Page: 955
End Page: 963
Language: English
DOI: 10.1007/s10552-008-9160-7
PUBMED: 18437511
PROVIDER: scopus
PMCID: PMC2683972
DOI/URL:
Notes: --- - "Cited By (since 1996): 11" - "Export Date: 17 November 2011" - "CODEN: CCCNE" - "Source: Scopus"
Altmetric Score
MSK Authors
  1. Camelia S Sima
    208 Sima
  2. Asya Syed Ali
    8 Ali
  3. Haider Asad
    12 Asad
  4. Sara H Olson
    216 Olson
  5. Irene Orlow
    200 Orlow
  6. Robert Soslow
    659 Soslow
  7. Ippolito Modica
    11 Modica
  8. Ann G Zauber
    231 Zauber
  9. Pampa Roy
    33 Roy