Genetic variation in estrogen and progesterone pathway genes and breast cancer risk: an exploration of tumor subtype-specific effects

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• 作者：Sarah J. Nyante ; Marilie D. Gammon ; Jay S. Kaufman…
• 关键词：Breast cancer ; Single nucleotide polymorphisms ; Estrogen receptor ; Progesterone receptor ; Cytochrome P450 family 19 subfamily A polypeptide 1 ; 17 ; Beta hydroxysteroid dehydrogenase type II ; Sex hormone ; binding globulin ; 3 ; Beta hydroxysteroid dehydrogenase type I
• 刊名：Cancer Causes & Control
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：26
• 期：1
• 页码：121-131
• 全文大小：219 KB
• 参考文献：1. Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, Pollack JR, Ross DT, Johnsen H, Akslen LA, Fluge O, Pergamenschikov A, Williams C, Zhu SX, Lonning PE, Borresen-Dale AL, Brown PO, Botstein D (2000) Molecular portraits of human breast tumours. Nature 406:747-52 CrossRef
  2. Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, Hastie T, Eisen MB, van de Rijn M, Jeffrey SS, Thorsen T, Quist H, Matese JC, Brown PO, Botstein D, Eystein Lonning P, Borresen-Dale AL (2001) Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci USA 98:10869-0874 CrossRef
  3. Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, Deng S, Johnsen H, Pesich R, Geisler S, Demeter J, Perou CM, Lonning PE, Brown PO, Borresen-Dale AL, Botstein D (2003) Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100:8418-423 CrossRef
  4. Millikan RC, Newman B, Tse CK, Moorman PG, Conway K, Dressler LG, Smith LV, Labbok MH, Geradts J, Bensen JT, Jackson S, Nyante S, Livasy C, Carey L, Earp HS, Perou CM (2008) Epidemiology of basal-like breast cancer. Breast Cancer Res Treat 109:123-39 CrossRef
  5. Yang XR, Sherman ME, Rimm DL, Lissowska J, Brinton LA, Peplonska B, Hewitt SM, Anderson WF, Szeszenia-Dabrowska N, Bardin-Mikolajczak A, Zatonski W, Cartun R, Mandich D, Rymkiewicz G, Ligaj M, Lukaszek S, Kordek R, Garcia-Closas M (2007) Differences in risk factors for breast cancer molecular subtypes in a population-based study. Cancer Epidemiol Biomarkers Prev 16:439-43 CrossRef
  6. O’Brien KM, Cole SR, Tse CK, Perou CM, Carey LA, Foulkes WD, Dressler LG, Geradts J, Millikan RC (2010) Intrinsic breast tumor subtypes, race, and long-term survival in the Carolina Breast Cancer Study. Clin Cancer Res 16:6100-110. doi:10.1158/1078-0432.CCR-10-1533 CrossRef
  7. Easton D (2012) Germline polymorphisms and susceptibility to breast cancer. San Antonio Breast Cancer Symposium, San Antonio, TX
  8. Peng S, Lu B, Ruan W, Zhu Y, Sheng H, Lai M (2011) Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies. Breast Cancer Res Treat 127:309-24. doi:10.1007/s10549-011-1459-5 CrossRef
  9. Broeks A, Schmidt MK, Sherman ME et al (2011) Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 20:3289-303. doi:10.1093/hmg/ddr228 CrossRef
  10. O’Brien KM, Cole SR, Engel LS, Bensen JT, Poole CL, Herring AH, Millikan RC (2013) Breast cancer subtypes and previously established genetic risk factors: A Bayesian approach. Cancer Epidemiol Biomarkers Prev. doi:10.1158/1055-9965.epi-13-0463
  11. Barbieri RL (2004) The Breast. In: Strauss JF, Barbieri RL (eds) Yen and Jaffe’s reproductive endocrinology, 5th edn. Elsevier, Philadelphia, pp 307-26
  12. Conneely OM, Mulac-Jericevic B, Lydon JP (2003) Progesterone-dependent regulation of female reproductive activity by two distinct progesterone receptor isoforms. Steroids 68:771-78 CrossRef
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• 作者单位：Sarah J. Nyante (1)
  Marilie D. Gammon (2) (3)
  Jay S. Kaufman (4)
  Jeannette T. Bensen (2) (3)
  Dan Yu Lin (3) (5)
  Jill S. Barnholtz-Sloan (6)
  Yijuan Hu (5)
  Qianchuan He (7)
  Jingchun Luo (3)
  Robert C. Millikan (2) (3)
  
  1. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
  2. Epidemiology Department, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
  3. Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
  4. Department of Epidemiology, Biostatistics, and Occupational Health, McGill University, Montreal, QC, Canada
  5. Biostatistics Department, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
  6. Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA
  7. Fred Hutchinson Cancer Research Center, Seattle, WA, USA
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  Cancer Research
  Public Health
  Epidemiology
  Hematology
  
• 出版者：Springer Netherlands
• ISSN：1573-7225

文摘

Purpose To determine whether associations between estrogen pathway-related single nucleotide polymorphisms (SNPs) and breast cancer risk differ by molecular subtype, we evaluated associations between SNPs in cytochrome P450 family 19 subfamily A polypeptide 1 (CYP19A1), estrogen receptor (ESR1), 3-beta hydroxysteroid dehydrogenase type I (HSD3B1), 17-beta hydroxysteroid dehydrogenase type II (HSD17B2), progesterone receptor (PGR), and sex hormone-binding globulin (SHBG) and breast cancer risk in a case–control study in North Carolina. Methods Cases (n?=?1,972) were women 20-4?years old and diagnosed with breast cancer between 1993 and 2001. Population-based controls (n?=?1,776) were frequency matched to cases by age and race. A total of 195 SNPs were genotyped, and linkage disequilibrium was evaluated using the r 2 statistic. Odds ratios (ORs) and 95?% confidence intervals (CIs) for associations with breast cancer overall and by molecular subtype were estimated using logistic regression. Monte Carlo methods were used to control for multiple comparisons; two-sided p values ? were statistically significant. Heterogeneity tests comparing the two most common subtypes, luminal A (n?=?679) and basal-like (n?=?200), were based on the Wald statistic. Results ESR1 rs6914211 (AA vs. AT+TT, OR 2.24, 95?% CI 1.51-.33), ESR1 rs985191 (CC vs. AA, OR 2.11, 95?% CI 1.43-.13), and PGR rs1824128 (TT+GT vs. GG, OR 1.33, 95?% CI 1.14-.55) were associated with risk after accounting for multiple comparisons. Rs6914211 and rs985191 were in strong linkage disequilibrium among controls (African-Americans r 2?=?0.70; whites r 2?=?0.95). There was no evidence of heterogeneity between luminal A and basal-like subtypes, and the three SNPs were also associated with elevated risk of the less common luminal B, HER2+/ER? and unclassified subtypes. Conclusions ESR1 and PGR SNPs were associated with risk, but lack of heterogeneity between subtypes suggests variants in hormone-related genes may play similar roles in the etiology of breast cancer molecular subtypes.