Investigation of metastasis-associated in colon cancer-1 genetic variants in the development and clinicopathologcial characteristics of uterine cervical cancer in Taiwanese women

Abstract

The objectives of this study were to define the associations among single nucleotide polymorphisms (SNPs) of metastasis-associated in colon cancer-1 (MACC1) gene, development and clinicopathological characteristics of uterine cervical cancer, and patient survival in Taiwan. Genotypic frequencies of 5 MACC1 SNPs rs975263, rs3095007, rs4721888, rs3735615 and rs1990172 were identified for 132 patients with invasive cancer, 99 with high-grade cervical intraepithelial neoplasia and 338 normal controls using real-time polymerase chain reaction. It revealed that there were no associations of these MACC1 SNPs with cervical carcinogenesis. In the meantime, cervical cancer patients with genotype GG in MACC1 SNP rs975263 tended to display more risk to have vaginal invasion than those with AA/AG (p=0.042, OR: 8.70, 95% CI: 0.81-433.22). In multivariate analysis, positive pelvic lymph node metastasis could significantly predict worse 5 years survival rate (p=0.001; HR=9.98, 95% CI=2.64-37.77) for cervical cancer patients. In conclusion, pelvic lymph node status rather than MACC1 SNPs was the only independent parameter that could significantly predict 5 years survival rate in Taiwanese women with cervical cancer.

Effect of MACC1 Genetic Polymorphisms and Environmental Risk Factors in the Occurrence of Oral Squamous Cell Carcinoma

“…Only TC + CC genotype of SNP rs975263 showed significance for the lymph node metastasis in oral cancer patients with betel quid chewing habits. This result is similar to the aforementioned studies of rs975263 in younger colon cancer patients with TC genotype decreasing metastasis-free survival [18], and uterine cervical cancers of Taiwanese female patients with CC genotype suffering a higher risk of vaginal invasion [23]. However, in the HER2-positive breast cancer patients, the TT genotype of rs975263 is related to a lower survival rate [22].…”

“…To obtain adequate power for evaluating the potential association, we investigated the SNPs rs3095007, rs1990172, rs4721888, rs975263, and rs3735615 in MACC1, those with minor allele frequencies ≥ 5% and also reported as involved in the susceptibility to the development of various cancer types [21,23]. The specimens from oral cancer patients and normal controls were further isolated from the genomic DNA with QIAamp DNA blood mini kits.…”

“…In breast cancer, the human epidermal growth factor 2 (HER2)-positive patients with a G-allele of rs1990172 or T-allele of rs975263 had a lower survival rate, but the patients with a C-allele of rs3735615 had a better survival rate [22]. Furthermore, in uterine cervical cancers of Taiwanese female patients with a CC genotype of rs975263 had a higher risk for vaginal invasion [23].…”

Impact of pentraxin 3 genetic variants on uterine cervical cancer clinicopathologic characteristics

“…PTX3 SNPs rs2120243, rs3816527, rs2305619 and rs1840680 were detected by ABI StepOne Real-Time PCR System (Applied Biosystems, Foster City, CA, USA), and determined with SDS vers. 3.0 software, as our previous study [24].…”

“…The samples were collected into Vacutainer tubes mingled with ethylenediaminetetraacetic acid, and immediately stored at 4 °C. DNA was extracted from white blood cells according to previous study [24]. The obtained DNA was then dissolved in pH 7.8 TE buffer.…”