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Open access

Sebastian Surugiu, Adina Chis, Codruta Mare, Horea Matei and Florin Stamatian

Abstract

Objective: the pourpose of the study was to determine if there are any differences between placenta derived plasmatic levels of messenger RNA in normal and future preeclamptic pregnancies and if these placental transcripts can predict preeclampsia long before clinical onset

Study design: we compared plasmatic expression of two placental transcripts from 12 women who ultimately developed preeclampsia with 224 controlled subjects, at the end of the first trimester of pregnancy. After multiplse-of-the-median conversion of markers we developed a multivariate model using logistic regression to determine preeclampsia risk.

Results: we found lower multiples of the median values for both placental transcripts (mRNA corresponding to placental growth factor and pregnancy associated plasmatic protein A) in cases who ultimately developed preeclampsia and the multivariate model we obtained offered a preeclampsia detection rate of 75% at 10% false positive rate.

Conclusion: specific early changes of placenta-derived messenger RNA could be used as preeclampsia predictors.

Open access

Iulian Gabriel Goidescu, Dan Tudor Eniu, Gabriela Valentina Caracostea, Gheorghe Cruciat and Florin Stamatian

Abstract

Introduction: Breast cancer is the most common cancer in women worldwide, and Romania makes no exception from this trend. Genetic screening for Hereditary Breast and Ovarian Cancer began to be used on a larger scale after the introduction of Next Generation Sequencing. The aim of this study was to assess the association of deleterious mutations responsible for breast cancer with histopathological and immunohistochemical prognostic factors and to identify some genetic variants in the BRCA1 and BRCA2 genes. Method: 80 patients with breast cancer and negative genetic test or pathogenic variants on BRCA1/2, TP53, PALB2, CHEK2, ATM genes were included. All the cases had a prior histological diagnosis and complete immunohistochemical features. The genetic testing was conducted through a multigene panel. Results: 65% of patients had a deleterious mutation on BRCA genes. In 97.5% of cases the histology was invasive ductal carcinoma. Significant differences were identified between BRCA1 group and negative mutation group regarding estrogen receptor (ER) (p=0.0051), progesterone receptor (PR) (p=0.0004) and Ki67 (p=0.001). Seven breast cancer patients had BRCA1 c.3607C>T variant, which was statistically significantly associated with triple- negative breast cancer (p <0.0001). Of the 7 cases diagnosed with BRCA 2 mutations we identified the c.8755-1G>A variant in 3 cases and the c.9371A>T variant in 3 cases. Discussion and conclusion: Our study confirmed the association of BRCA1 mutations with negative ER, PR or triple negative breast cancer (TNBC). Description of BRCA1 c.3607C>T mutation for the first time in Romanian population and its association with TNBC will need further investigation.

Open access

Mureșan Daniel, Andreea Cătană, Radu Anghel Popp, Diana Elena Dumitraș, Florin Stamatian, Anca Dana Buzoianu and Ioana Cristina Rotar

Abstract

Aim: The present study aim to analyze the relationship between GST M/T genotypes of glutathione S-transferases and cervical intraepithelial neoplasia.

Materials and Methods: A prospective case-control study has been designed including 69 cases with different degrees of cervical dysplasia and 107 controls. All patients had been examined colposcopically. For every patient both cervical and blood specimen have been obtained. The peripheral blood was used for GST M/T genotyping. The statistical analysis was performed using OR and chi-square at a level of significance inferior to 0.05.

Results: No statistically significant differences had been found between cases and controls for GST T-/M- geno-type (T-/M-, χ2=0.03, p= 0.8610) and T+/M+ χ2=0.65, p = 0.4197. Patients with in situ carcinoma had significant GST genotype association for T-/M+ genotype (OR=4.66, CI 95% [0.6528,24.9725], χ2=4.6, p=0.0314) and for T+/M- genotype (OR=0.12, CI 95% [0.0027,0.9465], χ2=0.05, p=0.0219).

Conclusion: The combination of GST genotypes can be included in a predictive score for patients with cervical carcinoma.