Genetic Polymorphisms and Endometrial Cancer Risk

Overview

Journal Expert Rev Anticancer Ther

Specialties Oncology
Pharmacology

Date 2008 Jul 1

PMID 18588460

Citations 13

Authors

Larissa A Meyer

Shannon N Westin

Karen H Lu

Michael R Milam

Affiliations

Soon will be listed here.

Abstract

For most sporadic cancers, genetic susceptibility results from the additive effect of multiple genetic variants, each of which contributes a modest risk individually. The study of genetic single nucleotide polymorphisms (SNPs) may help explain the differences in individual cancer susceptibility and may assist in identifying novel markers of risk that can be utilized to create more effective and tailored cancer prevention strategies. Genetic polymorphisms in functionally critical genes have been suggested as risk factors for the development of a variety of cancers, including endometrial cancer. Candidate SNPs may be involved in DNA damage repair, steroid metabolism, carcinogen metabolism, cell-cycle control, apoptosis and steroid receptor activation pathways. In this review, recent findings of genetic association studies exploring genetic polymorphisms and their association with endometrial cancer are reported. In addition, the challenges of genetic association studies, such as power and bias, and the need for validation of promising findings are explored.

Citing Articles

Association between single nucleotide polymorphisms in the programmed cell death 6 gene and the risk of endometrial cancer in Chinese Han women.

Yuan M, Song Y, You D, Li Q, Zhang Y, Zhou B Int J Clin Exp Pathol. 2020; 10(11):11169-11178.

PMID: 31966467 PMC: 6965880.

Anti-Müllerian Hormone Expression in Endometrial Cancer Tissue.

Gowkielewicz M, Lipka A, Piotrowska A, Szadurska-Noga M, Nowakowski J, Dziegiel P Int J Mol Sci. 2019; 20(6).

PMID: 30884769 PMC: 6471522. DOI: 10.3390/ijms20061325.

Cancer Progress and Priorities: Uterine Cancer.

Felix A, Brinton L Cancer Epidemiol Biomarkers Prev. 2018; 27(9):985-994.

PMID: 30181320 PMC: 6504985. DOI: 10.1158/1055-9965.EPI-18-0264.

Association between XRCC1 single-nucleotide polymorphisms and susceptibility to nasopharyngeal carcinoma: An update meta-analysis.

Lin J, Ye Q, Wang Y, Wang Y, Zeng Y Medicine (Baltimore). 2018; 97(32):e11852.

PMID: 30095663 PMC: 6133630. DOI: 10.1097/MD.0000000000011852.

Association of rs2279744 and rs117039649 promoter polymorphism with the risk of gynecological cancer: A meta-analysis of case-control studies.

Zhang J, Zhang Y, Zhang Z Medicine (Baltimore). 2018; 97(2):e9554.

PMID: 29480845 PMC: 5943879. DOI: 10.1097/MD.0000000000009554.

References

McGrath M, Lee I, Hankinson S, Kraft P, Hunter D, Buring J . Androgen receptor polymorphisms and endometrial cancer risk. Int J Cancer. 2005; 118(5):1261-8. DOI: 10.1002/ijc.21436. View

Simpkins S, Bocker T, Swisher E, Mutch D, Gersell D, Kovatich A . MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Hum Mol Genet. 1999; 8(4):661-6. DOI: 10.1093/hmg/8.4.661. View

Ioannidis J, Ntzani E, Trikalinos T, Contopoulos-Ioannidis D . Replication validity of genetic association studies. Nat Genet. 2001; 29(3):306-9. DOI: 10.1038/ng749. View

Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D . Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006; 66(15):7810-7. DOI: 10.1158/0008-5472.CAN-06-1114. View

Grimes D, Schulz K . Making sense of odds and odds ratios. Obstet Gynecol. 2008; 111(2 Pt 1):423-6. DOI: 10.1097/01.AOG.0000297304.32187.5d. View

Gruber S, Thompson W . A population-based study of endometrial cancer and familial risk in younger women. Cancer and Steroid Hormone Study Group. Cancer Epidemiol Biomarkers Prev. 1996; 5(6):411-7. View

Kang S, Kim J, Park N, Song Y, Kang S, Lee H . Cyclin D1 polymorphism and the risk of endometrial cancer. Gynecol Oncol. 2005; 97(2):431-5. DOI: 10.1016/j.ygyno.2005.01.023. View

Berstein L, Imyanitov E, Kovalevskij A, Maximov S, Vasilyev D, Buslov K . CYP17 and CYP19 genetic polymorphisms in endometrial cancer: association with intratumoral aromatase activity. Cancer Lett. 2004; 207(2):191-6. DOI: 10.1016/j.canlet.2004.01.001. View

Donnellan R, Chetty R . Cyclin D1 and human neoplasia. Mol Pathol. 1998; 51(1):1-7. PMC: 395600. DOI: 10.1136/mp.51.1.1. View

10.

Roh J, Kim J, Park N, Song Y, Park I, Park S . p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer. Gynecol Oncol. 2004; 93(2):499-505. DOI: 10.1016/j.ygyno.2004.02.005. View

11.

Tao M, Cai Q, Zhang Z, Xu W, Kataoka N, Wen W . Polymorphisms in the CYP19A1 (aromatase) gene and endometrial cancer risk in Chinese women. Cancer Epidemiol Biomarkers Prev. 2007; 16(5):943-9. DOI: 10.1158/1055-9965.EPI-06-1012. View

12.

Cust A, Kaaks R, Friedenreich C, Bonnet F, Laville M, Lukanova A . Plasma adiponectin levels and endometrial cancer risk in pre- and postmenopausal women. J Clin Endocrinol Metab. 2006; 92(1):255-63. DOI: 10.1210/jc.2006-1371. View

13.

Soussi T . The p53 tumor suppressor gene: from molecular biology to clinical investigation. Ann N Y Acad Sci. 2000; 910:121-37; discussion 137-9. DOI: 10.1111/j.1749-6632.2000.tb06705.x. View

14.

Parazzini F, La Vecchia C, Bocciolone L, Franceschi S . The epidemiology of endometrial cancer. Gynecol Oncol. 1991; 41(1):1-16. DOI: 10.1016/0090-8258(91)90246-2. View

15.

Lukas J, Groshen S, Saffari B, Niu N, Reles A, Wen W . WAF1/Cip1 gene polymorphism and expression in carcinomas of the breast, ovary, and endometrium. Am J Pathol. 1997; 150(1):167-75. PMC: 1858522. View

16.

Olson S, Bandera E, Orlow I . Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: a HuGE review. Am J Epidemiol. 2006; 165(3):235-45. DOI: 10.1093/aje/kwk015. View

17.

Simpson E, Mahendroo M, Means G, Kilgore M, Corbin C, Mendelson C . Tissue-specific promoters regulate aromatase cytochrome P450 expression. J Steroid Biochem Mol Biol. 1993; 44(4-6):321-30. DOI: 10.1016/0960-0760(93)90235-o. View

18.

Collins F, Guyer M, Charkravarti A . Variations on a theme: cataloging human DNA sequence variation. Science. 1997; 278(5343):1580-1. DOI: 10.1126/science.278.5343.1580. View

19.

Niwa Y, Ito H, Matsuo K, Hirose K, Ito N, Mizuno M . Lymphotoxin-alpha polymorphisms and the risk of endometrial cancer in Japanese subjects. Gynecol Oncol. 2006; 104(3):586-90. DOI: 10.1016/j.ygyno.2006.09.007. View

20.

Sasaki M, Sakuragi N, Dahiya R . The CAG repeats in exon 1 of the androgen receptor gene are significantly longer in endometrial cancer patients. Biochem Biophys Res Commun. 2003; 305(4):1105-8. DOI: 10.1016/s0006-291x(03)00883-0. View