Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease
<p>Abstract</p> <p>Background</p> <p>A cohort study was conducted to examine the role of genetic polymorphisms in three estrogen metabolizing enzymes (<it>COMT</it>, <it>CYP1A1</it>, <it>CYP1B1</it>) and the two estrogen receptors (&l...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2006-06-01
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| Series: | BMC Cancer |
| Online Access: | http://www.biomedcentral.com/1471-2407/6/173 |
| _version_ | 1811283556135075840 |
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| author | Thuita Lucy W Newschaffer Craig J McSorley Meghan A Berndt Sonja I Gallicchio Lisa Argani Pedram Hoffman Sandra C Helzlsouer Kathy J |
| author_facet | Thuita Lucy W Newschaffer Craig J McSorley Meghan A Berndt Sonja I Gallicchio Lisa Argani Pedram Hoffman Sandra C Helzlsouer Kathy J |
| author_sort | Thuita Lucy W |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>A cohort study was conducted to examine the role of genetic polymorphisms in three estrogen metabolizing enzymes (<it>COMT</it>, <it>CYP1A1</it>, <it>CYP1B1</it>) and the two estrogen receptors (<it>ESR1</it>, <it>ESR2</it>) in the progression of benign breast disease (BBD) to breast cancer.</p> <p>Methods</p> <p>Among participants in an ongoing cohort study, 1438 Caucasian women had a breast biopsy for BBD and were successfully genotyped for at least one of the polymorphisms examined in this study. Genotypes were determined using DNA extracted from blood specimens collected in 1989. Incident cases of breast cancer occurring subsequent to BBD diagnosis up to 2003 were identified through cancer registries.</p> <p>Results</p> <p>Among all participants, the <it>ESR2 *5772G </it>allele was associated with a significant decrease in the risk of breast cancer among women with BBD (Odds Ratio (OR) 0.38; 95% Confidence Interval (CI) 0.15, 0.96). Compared to the reference wild-type genotypes, marginally significant associations with the development of breast cancer were observed between carriers of the variant <it>ESR1 – 104062T </it>allele (OR 0.70, 95% CI 0.45, 1.09), the variant <it>ESR2 *38A </it>allele (OR 1.40; 95% CI 0.88, 2.25), and the variant <it>CYP1B1 453Ser </it>allele (OR 1.48, 95% CI 0.95, 2.32).</p> <p>Conclusion</p> <p>The results indicate that specific polymorphisms in the <it>CYP1B1, ESR1</it>, and <it>ESR2 </it>genes may play a role in progression of BBD to breast cancer among Caucasian women. Although additional studies are needed to confirm or refute our findings, these results suggest that genetic markers may aid in the identification of women who are at risk for progression of BBD to cancer.</p> |
| first_indexed | 2024-04-13T02:13:32Z |
| format | Article |
| id | doaj.art-49eb15d9c2cf46e48b53fac9a6a5151f |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-04-13T02:13:32Z |
| publishDate | 2006-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-49eb15d9c2cf46e48b53fac9a6a5151f2022-12-22T03:07:13ZengBMCBMC Cancer1471-24072006-06-016117310.1186/1471-2407-6-173Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast diseaseThuita Lucy WNewschaffer Craig JMcSorley Meghan ABerndt Sonja IGallicchio LisaArgani PedramHoffman Sandra CHelzlsouer Kathy J<p>Abstract</p> <p>Background</p> <p>A cohort study was conducted to examine the role of genetic polymorphisms in three estrogen metabolizing enzymes (<it>COMT</it>, <it>CYP1A1</it>, <it>CYP1B1</it>) and the two estrogen receptors (<it>ESR1</it>, <it>ESR2</it>) in the progression of benign breast disease (BBD) to breast cancer.</p> <p>Methods</p> <p>Among participants in an ongoing cohort study, 1438 Caucasian women had a breast biopsy for BBD and were successfully genotyped for at least one of the polymorphisms examined in this study. Genotypes were determined using DNA extracted from blood specimens collected in 1989. Incident cases of breast cancer occurring subsequent to BBD diagnosis up to 2003 were identified through cancer registries.</p> <p>Results</p> <p>Among all participants, the <it>ESR2 *5772G </it>allele was associated with a significant decrease in the risk of breast cancer among women with BBD (Odds Ratio (OR) 0.38; 95% Confidence Interval (CI) 0.15, 0.96). Compared to the reference wild-type genotypes, marginally significant associations with the development of breast cancer were observed between carriers of the variant <it>ESR1 – 104062T </it>allele (OR 0.70, 95% CI 0.45, 1.09), the variant <it>ESR2 *38A </it>allele (OR 1.40; 95% CI 0.88, 2.25), and the variant <it>CYP1B1 453Ser </it>allele (OR 1.48, 95% CI 0.95, 2.32).</p> <p>Conclusion</p> <p>The results indicate that specific polymorphisms in the <it>CYP1B1, ESR1</it>, and <it>ESR2 </it>genes may play a role in progression of BBD to breast cancer among Caucasian women. Although additional studies are needed to confirm or refute our findings, these results suggest that genetic markers may aid in the identification of women who are at risk for progression of BBD to cancer.</p>http://www.biomedcentral.com/1471-2407/6/173 |
| spellingShingle | Thuita Lucy W Newschaffer Craig J McSorley Meghan A Berndt Sonja I Gallicchio Lisa Argani Pedram Hoffman Sandra C Helzlsouer Kathy J Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease BMC Cancer |
| title | Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease |
| title_full | Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease |
| title_fullStr | Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease |
| title_full_unstemmed | Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease |
| title_short | Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease |
| title_sort | polymorphisms in estrogen metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease |
| url | http://www.biomedcentral.com/1471-2407/6/173 |
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