Fas/Fas ligand (FasL) system is one of the key apoptotic signaling entities in the extrinsic apoptotic pathway. De-regulation of this pathway, i.e. by mutations may prevent the immune system from the removal of newly-formed tumor cells, and thus lead to tumor formation. The present study investigated the association between −1377 G/A (rs2234767) and −670 A/G (rs1800682) polymorphisms in Fas as well as single nucleotide polymorphisms INV2nt −124 A/G (rs5030772) and −844 C/T (rs763110) in FasL in a sample of Iranian patients with breast cancer. This case-control study was done on 134 breast cancer patients and 152 normal women. Genomic DNA was extracted from whole blood samples. The polymorphisms were determined by using tetra-ARMS-PCR method. There was no significant difference in the genotype distribution of FAS rs2234767 polymorphism between cases and controls. FAS rs1800682, FASL rs5030772, and FASL rs763110 genotypes showed significant associations with an increasing risk of breast cancer (odds ratio OR = 3.18, P = 0.019; OR = 5.08, P = 0.012; OR = 2.40, P = 0.024, respectively). In conclusion, FAS rs2234767 was not associated with breast cancer risk. Though, FAS rs1800682, FASL rs5030772, and FASL rs763110 polymorphisms were associated with the risk of breast cancer in the examined population.
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机译：Fas / Fas配体（FasL）系统是外在凋亡途径中关键的凋亡信号转导实体之一。该途径的失调，即通过突变，可能阻止免疫系统去除新形成的肿瘤细胞，从而导致肿瘤形成。本研究调查了Fas中−1377 G / A（rs2234767）和−670 A / G（rs1800682）多态性与单核苷酸多态性INV2nt −124 A / G（rs5030772）和−844 C / T（rs763110）之间的关联）在伊朗乳腺癌患者样本中的FasL中。这项病例对照研究是针对134位乳腺癌患者和152位正常女性进行的。从全血样本中提取基因组DNA。通过使用四ARMS-PCR方法确定多态性。病例与对照组之间FAS rs2234767基因多态性的基因型分布没有显着差异。 FAS rs1800682，FASL rs5030772和FASL rs763110基因型与乳腺癌风险增加显着相关（比值比OR（= 3.18，P = 0.019; OR = 5.08，P = 0.012; OR = 2.40，P = 0.024）。总之，FAS rs2234767与乳腺癌风险无关。但是，FAS rs1800682，FASL rs5030772和FASL rs763110多态性与受检人群中患乳腺癌的风险有关。
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