Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

Nirmala Dushyanthi Sirisena; Adebowale Adeyemo; Anchala Ishani Kuruppu; Nilakshi Samaranayake; Vajira Harshadeva Weerabaddana Dissanayake

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자료유형: 학술저널

저자정보: Nirmala Dushyanthi Sirisena (Human Genetics Unit Faculty of Medicine University of Colombo Sri Lanka) Adebowale Adeyemo (National Human Genome Research Institute Bethesda USA) Anchala Ishani Kuruppu (Human Genetics Unit Faculty of Medicine University of Colombo Sri Lanka) Nilakshi Samaranayake (Faculty of Medicine University of Colombo Colombo Sri Lanka) Vajira Harshadeva Weerabaddana Dissanayake (Human Genetics Unit Faculty of Medicine University of Colombo Sri Lanka)

저널정보: 한국유방암학회 Journal of Breast Cancer Journal of Breast Cancer Vol.21 No.2

발행연도: 2018.1

수록면: 165 - 172 (8page)

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Purpose: Several single nucleotide polymorphisms (SNPs) have been reported to be associated with clinicopathological profiles in sporadic breast cancer based on studies conducted on major population groups. The knowledge of the effects of these common genetic variants in South Asian populations remains limited. The present study aimed to investigate the association between a selected set of SNPs and the clinicopathological profiles in sporadic breast cancer in Sri Lankan women. Methods: A total of 350 postmenopausal women with histologically confirmed invasive breast cancer were genotyped for 58 SNPs located in 36 breast cancer related genes. The clinicopathological factors that were investigated included age of onset, tumor histologic grade, and lymph node involvement, as well as estrogen receptor (ER), progesterone receptor, and human epidermal growth factor receptor 2 (HER2) status. Association testing was performed using logistic regression models adjusted for confounding factors. Results: Seven SNPs showed significant associations with clinicopathological profiles in breast cancer. The G allele of BRCA1:rs799917 (p=0.047; β [standard error; SE]=–1.069 [0.537]) and the G allele of NQO2:rs17136117 (p=0.040, β [SE]=1.901 [0.923]) were found to be associated with age of onset between 50 and 59 years. The C allele of CDH1:rs13689 (odds ratio [OR], 2.121; p=0.033) was found to be associated with ER-positive breast cancer. The A allele of AKT1:rs1130214 (OR, 2.095; p=0.011) and the C allele of NQO2:rs2071002 (OR, 1.632; p=0.045) were associated with HER2-positive breast cancer. The C allele of BRCA2:rs15869 (OR, 1.600; p=0.041) and the C allele of CCND1:rs7177 (OR, 1.555; p=0.041) were associated with high tumor histologic grade. Conclusion: The common genetic variants identified in the AKT1, BRCA1, BRCA2, CCND1, CDH1, and NQO2 genes could serve as potential clinical and prognostic biomarkers in sporadic breast cancer patients. Further studies are required to validate our current findings in other populations.

참고문헌 (30)

참고문헌 신청

National Cancer Control Programme / 2016 / Cancer Incidence Data: Sri Lanka 2010

Sirisena ND / 2014 / Cancer genetics and the surgeon: new frontiers / Sri Lanka J Surg 32:12~19

Qin TT / 2014 / Association between BRCA1 rs799917 polymorphism and breast cancer risk: a meta-analysis of 19,878 subjects / Biomed Pharmacother 68:905~910

Yu KD / 2009 / Caution regarding genotyping methodology for a tri-allelic polymorphism in the novel breast cancer susceptibility gene NQO2 / Breast Cancer Res Treat 118:647~649

Sirisena ND / 2018 / Genetic determinants of sporadic breast cancer in Sri Lankan women / BMC Cancer 18:180

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