Breast cancer susceptibility : accessing newly discovered SNPs

• Main Author: Loh, Eunice Ting Wei
• Other Authors: School of Biological Sciences
• Format: Final Year Project
• Language: English
• Published: 2010
• Subjects: DRNTU::Science::Biological sciences::Genetics
• Online Access: http://hdl.handle.net/10356/39483
• Institution: Nanyang Technological University

Breast cancer susceptibility has been found to exhibit familial aggregation, caused by underlying genetic factors contributing to its risks. We seek to measure the association of three highly-associated single nucleotide polymorphisms (SNPs): rs2981582 (FGFR2), rs3803662 (TOX3) and rs3817198 (LSP1) that were previously identified in major genome-wide association studies (GWAS), particularly for risk assessment of the Chinese female population in Singapore. SNPs were genotyped in a cohort of 549 breast cancer cases and 498 controls, via real-time polymerase chain reaction (RT-PCR) using Taqman® SNP Genotyping Assays. The most significantly associated SNP was discovered to be rs2981582 in FGFR2 (Odds Ratio = 1.40; p-value = 0.01561), and was found to be associated in familial and late-onset cases, ER+/PR+ tumors, smaller tumor size, lower grade of tumor, lymph-node negativity, absence of metastasis and ductal subtypes. Lack of more significant associations was observed for rs3803662 (TOX3) and rs3817198 (LSP1). Analysis of FGFR2 expression levels in peripheral blood in relation to genotypes of rs2981582 has shown no correlation of expression levels with risk genotypes. We propose to investigate the functionality of rs2981582 located in intron 2 of FGFR2 in future studies.