Three cases of colon cancer in four generations of the Saudi family, caused by endogamous germline mutations.

Various research pieces of evidence have been published in recent years, establishing the increasing prevalence of early colon cancer among young people. In this background, the current study aimed to analyze the reasons behind colon cancer recurrence among endogamous consanguineous cases in four generations of a single Saud family. For this study, the authors conducted the whole-exome sequencing analysis to screen for germline mutations in DNA samples from consanguineous cases within the family. After collecting the colon samples, it was analyzed histologically and immunohistochemically with the help of Breast Cancer antibodies (BRCA2 and 1 correspondingly) and H&M staining (hematoxylin and eosin). For this study, 26 at-risk consanguineous cases were considered. Three cases were diagnosed with malignant colon cancer, two with breast cancer, and 17 with germline mutations, yet remain unaffected by cancerous tumors. The rest, four consanguineous cases, are healthy and non-carriers of the mutations. However, as per the exome analysis outcomes, 15 cases inherited germline mutations in nine genes. Nine substitution mutations were present in six of the nine inherited genes in these inherited germline mutations. Furthermore, it also presented six insertion and deletion frameshift mutations in five of nine inherited genes. The immunohistochemical staining process achieved positive staining outcomes for BRCA1 and 2. Therefore, germline mutations inherited from the nine genes of endogamous consanguineous cases of mutation carriers remain the primary reason behind colon cancer recurrence in the same family.

Identification, forensic evidences and effect of the most used lip cosmetics on the human STR profiling at Kingdom of Saudi Arabia.

This study aimed to identify the DNA STR profiles that were obtained from the lips with various lip cosmetics involved in lip pencil, lipsticks and lip gloss for a brand - Makeup Forever and lip balms (Labello brand) - have been popularly used by Saudi women at KSA. The study was involved 35 unrelated participants (healthy female donors) aged between 26 and 32. The swabbing of lip cosmetics was done prior to using them as negative control samples, other sterilized swabs were collected from the used lip cosmetics which contained the lip cells for each participant as a study sample. Moreover, the buccal swabs were firmly collected from the cleaned oral cavities for the same donors as reference samples. The air-drying of the collected swabs was done for ten minutes at room temperature and then stored them at - 20 °C before the DNA analysis. The 7500 Real-Time PCR (qRT-PCR) was quantified the extracted DNA. The amplification of 16 STR loci was done using the AmpFlSTR® Identifiler® PCR amplification kit using the Thermocycler ABI 9700 to amplify the extracted DNA. The Applied Bio-systems 3130™ Genetic Analyzer with Gene Mapper® ID-X Software v3.5 was used to analyze the PCR products. The data for quantifying DNA recorded significant decrease in the concentrations of DNA samples ranged from 0.15 to 0.55 ng/µL in comparison to the reference samples, while DNA was not detected in all the negative control samples. Some STR loci showed considerably high inhibition and low heterozygosity loss in the study samples compared to the reference and negative samples. The possibility of extracting DNA samples from lip cosmetics were used in the present study could be useful and successful in some cases due to the effect of the chemical compositions such as heavy pigments, organic components, and aromatic wax on the STR profiles in the lip cosmetics, especially in the lipsticks, lip glosses and lip pencils.

The function of long non-coding RNA SNHG11 and its working mechanism in triple-negative breast cancer.

Triple-negative breast cancer (TNBC) seriously affects woman's health. The present work is to study the working mechanism of lncRNA SNHG11 in TNBC. The expressions of SNHG11, microRNA (miR)- 7-5p, specificity protein 2 (SP2) and mucin 1 (MUC-1) in TNBC tissues and cells were detected. SNHG11, miR-7-5p and SP2 expressions were then evaluated for TNBC cell malignant behaviors. The relationships among SNHG11, miR-7-5p and SP2 were predicted and verified. Finally, the binding of the transcription factor SP2 to MUC-1 promoter was detected. Abnormally elevated SNHG11, SP2 and MUC-1 expressions were observed in cultured TNBC cells and tumor tissues. SNHG11 knockdown in TNBC cells. Silencing SP2 weakened the promoting effect of SNHG11 on TNBC progression. SNHG11 negatively regulated miR-7-5p expression and positively regulated SP2 expression. SP2 bound to the P2 site of MUC-1 promoter, and SP2 knockdown suppressed MUC-1 expression. It was demonstrated that lncRNA SNHG11 promoted TNBC cell malignant behaviors to facilitate TNBC progression. The study is first of its kinds to unravel the potential of lncRNA SNHG11 in relation to TNBC.

Forensic DNA Analysis of Mixed Mosquito Blood Meals: STR Profiling for Human Identification.

Mosquito vectors captured at a crime scene are forensically valuable since they feed on human blood, and hence, human DNA can be recovered to help identify the victim and/or the suspect. This study investigated the validity of obtaining the human short tandem repeats (STRs) profile from mixed blood meals of the mosquito, Culex pipiens L. (Diptera, Culicidae). Thus, mosquitoes were membrane-feed on blood from six different sources: a human male, a human female, mixed human male-female blood, mixed human male-mouse blood, mixed human female-mouse blood, and mixed human male-female-mouse blood. DNA was extracted from mosquito blood meals at 2 h intervals up to 72 h post-feeding to amplify 24 human STRs. Data showed that full DNA profiles could be obtained for up to 12 h post-feeding, regardless of the type of blood meal. Complete and partial DNA profiles were obtained up to 24 h and 36 h post-feeding, respectively. The frequencies of STR loci decreased over time after feeding on mixed blood until they became weakly detectable at 48 h post-feeding. This may indicate that a blood meal of human blood mixed with animal blood would contribute to maximizing DNA degradation and thus affects STR identification beyond 36 h post-feeding. These results confirm the feasibility of human DNA identification from mosquito blood meals, even if it is mixed with other types of non-human blood, for up to 36 h post-feeding. Therefore, blood-fed mosquitoes found at the crime scene are forensically valuable, as it is possible to obtain intact genetic profiles from their blood meals to identify a victim, a potential offender, and/or exclude a suspect.

Detecting STR profiles from degrading menstrual blood samples and their use as possible evidence in forensic investigations.

This research explores DNA consistency and attempts to detect STR profiles from the degrading menstrual blood samples (MBS) as reliable forensic evidence. Peripheral (PBS) and MBS of 30 healthy fertile females were taken on the menstrual cycle's second day. They were obtained at different time periods (0, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 24, and 48 h) at 25 °C. DNA evaluation was fulfilled to analyze DNA profiles. A considerable elevation in the median concentrations of DNA between 0 and 14-h intervals were documented, whereas decreased extents were registered between 16 and 48 h. Moreover, complete STR profiles (24/24) for DNA were discovered in all the intervals (0, 2, and 48 h). Periods of 0-8 h demonstrated the maximum extents of DNA materials. Full STR were discovered in all the intervals (0, 2, and 48 h). Eventually, MBS can be utilized as forensic evidence.

Assessment of Metastatic Colorectal Cancer (CRC) Tissues for Interpreting Genetic Data in Forensic Science by Applying 16 STR Loci among Saudi Patients.

BACKGROUND: In forensic science, there are cases when the only available provider of biological data is samples of malignant tissues. It can be useful in identification and/or paternity tests. Still, such samples have ambiguities because of microsatellite instability (MSI) and loss of heterozygosity (LOH) effects, being often related to neoplasia. METHODS: This research evaluates 16 autosomal short tandem repeat (STR) loci (traditional in forensic investigations) to get genetic data. MSI and LOH were estimated in DNA patterns derived from 73 Saudi respondents (30 healthy individuals and 43 persons with diagnosed colorectal cancer (CRC). Upon deriving DNA from blood, CRC specimens were obtained in both groups, along with the adjoining normal non-cancerous tissues (N-CRC). All specimens and 16 loci (15 STR loci and Amelogenin) were evaluated. Moreover, both colorectal samples were histologically analyzed utilizing HandE staining. RESULTS: Findings revealed non-essential variability in genetic information because of MSI and/or LOH. In CRC, mutations rates were 0.42% (MSI) and 1.62% (LOH). In N-CRC, mutation rates were 0.00% (MSI) and 0.59% (LOH). Further, LOH-related deviations were recorded in 5 loci out of 16. MSI-related deviations were recorded in 4 out of 16 loci, being present in CRC samples only. Genetic deviations within the marker loci might inform about false homozygosity/heterozygosity. Similarly, false gender might come from improper interpretation of DNA profiles. Finally, histopathological trials showed considerable histopathological alterations contrasted to N-CRC. CONCLUSION: This study is unique in demonstrating the application of 16 autosomal STRs from CRC samples and their comparison with the adjoining N-CRCs in Saudi participants, contributing to the field of forensic science. The experiment revealed no considerable distinctions, while showing that cancer tissues might display MSI and LOH effects that might challenge data interpretation, if STRs are to be applied in the forensic investigation.

Aqueous Extract of Origanum majorana at Low Temperature (0°C) Promotes Mitochondrial Fusion and Contributes to Induced Apoptosis in Human Breast Cancer Cells.

Marjoram plants have varied pharmacological properties because they contain antioxidants. In the present study, to evaluate the effect of Origanum majorana, gathered from Abha, Saudi Arabia, on the growth of human breast cancer cells using MCF7. Fresh aerial parts from Origanum majorana were extracted at a low temperature (0 ℃/6 hours). Human MCF7 breast cancer cells were then treated with 4 separate fluctuated concentrations of 0, 50, 150, 200 and 350 µg/mL for 24 and 48 hours. The findings showed that Origanum majorana aqueous extract contained absolute phenolic content (TPC) was 58.24 mg equivalent/g DW, and the complete flavonoid content (TFC) 35.31 mg GAE equivalent/g DW in the Origanum majorana aqueous extract. The endurance of MCF7 cells after incubation with aqueous extract diminished, indicating that Origanum majorana is tumour cell selective. Origanum majorana extract increased the mRNA Expression of Apoptotic Genes in MCF7. Majorana aqueous extract expanded the activity of Caspase-7 action specifically at higher concentrations, 150, 200, and 350 µg/ml. Our findings indicate that Origanum majorana could induce apoptosis of human breast cancer cells. This is the first study that provides a basis for the use of aqueous Origanum majorana extracted at low temperature (0 °C/6 hours) as more effective anticancer treatment.

Low-temperature extracts of Purple blossoms of basil (Ocimum basilicum L.) intervened mitochondrial translocation contributes prompted apoptosis in human breast cancer cells.

BACKGROUND: The preventive and therapeutic medical utilization of this plant is an age-long practice across the globe. This study aimed to validate the impact of dark purple blossoms of basil (Ocimum basilicum L.) aqueous extract at low temperature (0 °C) mediated mitochondrial fission contributed to induced apoptosis in human breast cancer cells. METHODS: Fresh blossoms were extracted at low temperature (0 °C) using a watery solvent. Human MCF7 breast cancer cells were then treated with 3 separate fluctuated concentrations of 0, 50, 150 and 250 µg/mL for 24 and 48 h. RESULTS: The outcomes demonstrated the presence of anthocyanins, anthraquinones, tannins, reducing sugars, glycosides, proteins, amino acids, flavonoids and volatile oils and nonappearance of Terpinoids and alkaloids. Contrastingly, frail presence of steroids in basil blossoms aqueous concentrate was noted. In addition, the results from a phytochemical subjective examination of basil (Ocimum basilicum L.) blossoms aqueous extract demonstrated that most of the credited natural impacts containing more remarkable contents of antioxidants and anticancer compounds in basil blossoms aqueous extract. Moreover, the restraint of glucose take-up was alleviated mediated by a dose-dependent manner in MCF7 cells with basil (Ocimum basilicum L.) blossoms aqueous extract inducted for 24 h, resulting in mitochondrial fission. CONCLUSION: This is the first study that shows the impact of the aqueous extract of basil (Ocimum basilicum L.) blossoms was extracted at low temperature (0℃/6 h) underlined high amounts of flavonoids and phenolic compounds bearing more anticancer and antioxidant activities compared to another aqueous extract (using boiled water solvent) and alcoholic extracts.

Low-Temperature Extracts of Purple Blossoms of Basil (Ocimum Basilicum L) Intervened Mitochondrial Translocation Contributes Prompted Apoptosis in Human Breast Cancer Cells

BACKGROUND: The preventive and therapeutic medical utilization of this plant is an age-long practice across the globe. This study aimed to validate the impact of dark purple blossoms of basil (Ocimum basilicum L.) aqueous extract at low temperature (0 °C) mediated mitochondrial fission contributed to induced apoptosis in human breast cancer cells. METHODS: Fresh blossoms were extracted at low temperature (0 °C) using a watery solvent. Human MCF7 breast cancer cells were then treated with 3 separate fluctuated concentrations of 0, 50, 150 and 250 µg/mL for 24 and 48 h. RESULTS: The outcomes demonstrated the presence of anthocyanins, anthraquinones, tannins, reducing sugars, glycosides, proteins, amino acids, flavonoids and volatile oils and nonappearance of Terpinoids and alkaloids. Contrastingly, frail presence of steroids in basil blossoms aqueous concentrate was noted. In addition, the results from a phytochemical subjective examination of basil (Ocimum basilicum L.) blossoms aqueous extract demonstrated that most of the credited natural impacts containing more remarkable contents of antioxidants and anticancer compounds in basil blossoms aqueous extract. Moreover, the restraint of glucose take-up was alleviated mediated by a dose-dependent manner in MCF7 cells with basil (Ocimum basilicum L.) blossoms aqueous extract inducted for 24 h, resulting in mitochondrial fission. CONCLUSION: This is the first study that shows the impact of the aqueous extract of basil (Ocimum basilicum L.) blossoms was extracted at low temperature (0°C/6 h) underlined high amounts of flavonoids and phenolic compounds bearing more anticancer and antioxidant activities compared to another aqueous extract (using boiled water solvent) and alcoholic extracts.