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BackgroundBreast cancer is the most common malignancy in women around the world so finding new biomarkers for early detection and also study on molecular aspects of breast cancer is valuable. Cancer testis genes are a group of genes expressed solely in testis and in a range of human malignancies.ObjectivesIn this study we determined the expression of cancer testis genes Tsga10, TEX101 and ODF3 in patients with breast cancer.Materials and MethodsFifty patients with breast cancer were enrolled in this study. Breast cancer cell lines MCF-7 and MDA-MB-231 were also used to determine the expression of testis cancer genes. For both patients and cell lines, cancer testis genes of TSGA10, TEX101 and ODF3 were determined by RT-PCR. The presence of auto antibody against these genes in patients’ serums was carried on by ELISA method.ResultsSeventy percent of patients showed TSGA10 expression but none of them showed expression of TEX101 and ODF3. Fourteen percent of patients were positive for anti TSGA10 but all patients were negative for anti TEX101 and anti ODF3. Both of breast cancer cell lines exhibited very strong expression of TSGA10.ConclusionsBecause of the important roles of Tsga10 in cell proliferation, we concluded that this gene may have a role in proliferation and survival of breast cancer cells and could be used for diagnosis and immunotherapy of breast cancer.

Objectives: Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of interest from both geneticists and obstetricians. Efficacy of this method in identification of common aneuploidies has been extensively assessed in singleton pregnancies. However, a limited number of studies have addressed the twin pregnancies. In this context, the present study is aimed at identification of the efficacy of NIPT in twin pregnancies. Methods: NIPT was performed on twin pregnancies to screen trisomies 13, 18 and 21. Pregnant women referring to Nilou Clinical Laboratory between March 2016 and December 2018 were included in this research. Results: In the current study, a total 356 twin pregnancies were screened in search for trisomies 13, 18 and 21. 6 cases exhibited positive NIPT results in which the presence of trisomies 13, 18 and 21 was confirmed by fetal karyotype in 1, 2 and 2 cases, respectively. One twin pregnancy showed normal karyotype. The combined false-positive rate for these trisomies was 0.28%. No false negative case was observed. The combined sensitivity and specificity of NIPT in twin pregnancies were 100 and 99.7%, respectively. Conclusion: The results of the current study verify the feasibility, sensitivity and specificity of NIPT in twin pregnancies.

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The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward’s syndrome, abnormal mosaicisms and Patau’s syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.