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UTILITY OF AMPLIFICATION-REFRACTORY MUTATION SYSTEM FOR THE DETECTION CLINICALLY SIGNIFICANT ESTROGEN AND PROGESTERONE RECEPTORS GENE VARIATIONS IN BREAST CANCER PATIENTS IN SAUDI ARABIA

Ibrahim Altedlawi Albalawi, Rashid Mir, Abu-Duhier FM

Purpose: The ER, PR genetic variations has been reported to be functional and may contribute to genetic susceptibility to Breast cancer however, their detection methods vary in sensitivity and specificity therefore molecular based assay can be potentially useful for detection of clinically important ER and PR gene variations when targeted therapies against ER,PR become available. Therefore the aim of the study was to establish economical molecular based assay for the detection of clinically important ER,PR gene variation in Breast cancer patients. Methodology: This study was conducted on 85 histologically confirmed Breast cancer patients. DNA was extracted by using DNA extraction kit from Breast cancer patient and ARMS-PCR was established for the detection estrogen and progesterone receptor gene variations in Breast cancer patients. The results were confirmed by Sanger sequencing. Results: Of 85 consecutive breast cancer patients, (27 % were below or equal to 40 years age and 73% were above 40 years of age. Of breast cancer cases 38 (44.70%) were in early (I &II) stage and 47 (55.29%) cases were in advanced stages (III & IV). Out of 100 cases, 69 (81%) patients had distant metastasis and 16 (19%) does not show distant metastasis and out of 85 cases, 9 (11 %) patients were treated with herceptin and 76 (89 %) were not treated with herceptin. Tamoxifen has been the basis of endocrine therapy for patients with ER (+) breast cancer for more than three decades. The treatment reduces the annual mortality rate of breast cancer by 31%, and remains the most effective targeted cancer therapy. However, approximately one-third of patients treated with adjuvant tamoxifen suffer from aggressive recurrent disease. Resistance to tamoxifen, thus, remains a major challenge in providing effective treatments for these patients. There are many conflicting results in the literature comparing quality of life following breast-conserving therapy (BCT) and mastectomy. In our study, out of 85 cases, 29 (34 %) patients received mastectomy and 56 (66%) did not received mastectomy. Lumpectomy (also known as breast conserving surgery, partial mastectomy or wide excision) is a surgery to remove cancer from the breast. Unlike a mastectomy, a lumpectomy removes only the tumor and a small rim of normal tissue around it. It leaves most of the breast skin and tissue in place. In our study, out of 85 cases, 17 (20%) patients received mastectomy and 68 (80%) did not received mastectomy. Amplification-refractory mutation system PCR for estrogen receptor 1 (ESR1 PvuII-rs2234693 T>C) and progesterone receptor (PR) rs590688 G/C, rs10895068C/T gene variations was successfully was established in Breast cancer. Conclusion: It was concluded that the ARMS-PCR assay proved to an appropriate methodology considered for using ER and PR gene variations and allows discrimination between homozygous and heterozygous individuals. The test is therefore a simple, fast, and inexpensive procedure that does not entail any special equipment other than a thermocycler. Keywords: Breast cancer, Estrogen and progesterone receptors, ESR1 PvuII gene variation -rs2234693 T>C , progesterone receptor, +331 C/T, rs10895068, Amplification Refractory Mutation System (ARMS).

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