Error Repair Research Articles

Características histopatológicas del carcinoma colorrectal con inestabilidad microsatelital (IMS)

El carcinoma colorrectal es una de las neoplasias con mayor incidencia a nivel mundial. Algunos de los tipos de cáncer colorrectal tienen componente hereditario y asociación con defectos en la reparación génica a nivel replicacional por mutaciones en los genes encargados (MLH1, MSH2, MSH6 y PMS2) llamándose esto la inestabilidad microsatélite. Esta situación se acompaña de mayor predisposición a desarrollar carcinoma colorrectal y carcinomas extracolónicos que incluyen cáncer de estómago, endometrio, ovarios, tracto urinario, entre otros. Es importante, entonces, evaluar la presencia de la inestabilidad microsatélite a nivel histopatológico conociendo que hay algunos hallazgos que hacen sospechar la presencia de estas alteraciones genéticas, tales como la presencia de linfocitos intraepiteliales, infiltrado inflamatorio Crohn-like, el subtipo histológico y la localización. El objetivo de este artículo es revisar en detalle algunas características de las variables mencionadas, así como de resaltar la importancia de otras variables histopatológicas con impacto pronóstico.

An Adaptive Face Image Inpainting Algorithm Based on Feature Symmetry

Face image inpainting technology is an important research direction in image restoration. When the current image restoration methods repair the damaged areas of face images with weak texture, there are problems such as low accuracy of face image decomposition, unreasonable restoration structure, and degradation of image quality after inpainting. Therefore, this paper proposes an adaptive face image inpainting algorithm based on feature symmetry. Firstly, we locate the feature points of the face, and segment the face into four feature parts based on the feature point distribution to define the feature search range. Then, we construct a new mathematical model, introduce feature symmetry to improve priority calculation, and increase the reliability of priority calculation. After that, in the process of searching for matching blocks, we accurately locate similar feature blocks according to the relative position and symmetry criteria of the target block and various feature parts of the face. Finally, we introduced the HSV (Hue, Saturation, Value) color space to determine the best matching block according to the chroma and brightness of the sample, reduce the repair error, and complete the face image inpainting. During the experiment, we firstly performed visual evaluation and texture analysis on the inpainting face image, and the results show that the face image inpainting by our algorithm maintained the consistency of the face structure, and the visual observation was closer to the real face features. Then, we used the peak signal-to-noise ratio (PSNR) and structural similarity (SSIM) as objective evaluation indicators; among the five sample face images inpainting results given in this paper, our method was better than the reference methods, and the average PSNR value improved from 2.881–5.776 dB using our method when inpainting 100 face images. Additionally, we used the time required for inpainting the unit pixel to evaluate the inpainting efficiency, and it was improved by 12%–49% with our method when inpainting 100 face images. Finally, by comparing the face image inpainting experiments with the generative adversary network (GAN) algorithm, we discuss some of the problems with the method in this paper based on graphics in repairing face images with large areas of missing features.

Prevention of DNA Replication Stress by CHK1 Leads to Chemoresistance Despite a DNA Repair Defect in Homologous Recombination in Breast Cancer.

Chromosomal instability not only has a negative effect on survival in triple-negative breast cancer, but also on the well treatable subgroup of luminal A tumors. This suggests a general mechanism independent of subtypes. Increased chromosomal instability (CIN) in triple-negative breast cancer (TNBC) is attributed to a defect in the DNA repair pathway homologous recombination. Homologous recombination (HR) prevents genomic instability by repair and protection of replication. It is unclear whether genetic alterations actually lead to a repair defect or whether superior signaling pathways are of greater importance. Previous studies focused exclusively on the repair function of HR. Here, we show that the regulation of HR by the intra-S-phase damage response at the replication is of overriding importance. A damage response activated by Ataxia telangiectasia and Rad3 related-checkpoint kinase 1 (ATR-CHK1) can prevent replication stress and leads to resistance formation. CHK1 thus has a preferred role over HR in preventing replication stress in TNBC. The signaling cascade ATR-CHK1 can compensate for a double-strand break repair error and lead to resistance of HR-deficient tumors. Established methods for the identification of HR-deficient tumors for Poly(ADP-Ribose)-Polymerase 1 (PARP1) inhibitor therapies should be extended to include analysis of candidates for intra-S phase damage response.

Think Twice: Effects on Diagnostic Accuracy of Returning to the Case to Reflect Upon the Initial Diagnosis.

Diagnostic errors have been attributed to failure to sufficiently reflect on initial diagnoses. However, evidence of the benefits of reflection is conflicting. This study examined whether reflection upon initial diagnoses on difficult cases improved diagnostic accuracy and whether reflection triggered by confrontation with case evidence was more beneficial than simply revising initial diagnoses. Participants were physicians in Bern, Switzerland, registered for the 2018 Swiss internal medicine certification exam. They diagnosed written clinical cases, providing an initial diagnosis by following the same instructions and returning to the case to provide a final diagnosis. The latter required different types of reflection depending on the physician's experimental condition: return without instructions, identify confirmatory evidence, identify contradictory evidence, or identify both confirmatory and contradictory evidence. The authors examined diagnostic accuracy scores (range 0-1) as a function of diagnostic phase and reflection type. One hundred and sixty-seven physicians participated. Diagnostic accuracy scores did not significantly differ between the 4 groups of physicians in the initial (I) or the final (F) diagnostic phase (mean [95% CI]: return without instructions, I: 0.21 [0.17, 0.26], F: 0.23 [0.18, 0.28]; confirmatory evidence, I: 0.24 [0.19, 0.29], F: 0.31 [0.25, 0.37]; contradictory evidence, I: 0.22 [0.17, 0.26], F: 0.26 [0.22, 0.30]; confirmatory and contradictory evidence, I: 0.19 [0.15, 0.23], F: 0.25 [0.20, 0.31]). Regardless of type of reflection employed while revising the case, accuracy increased significantly between initial and final diagnosis, I: 0.22 (0.19, 0.24) vs F: 0.26 (0.24, 0.29); P < .001. Physicians' diagnostic accuracy improved after reflecting upon initial diagnoses provided for difficult cases, independently of the evidence searched for while reflecting. The findings support the importance attributed to reflection in clinical teaching. Future research should investigate whether revising the case can become more beneficial by triggering additional reflection.

Self-repair in consecutive interpreting: similarities and differences between professional interpreters and student interpreters

ABSTRACT The present study investigates the similarities and differences between professional and student interpreters in their use of self-repairs, in terms of form and motivation, and analyzes the impact of expertise on fluency. To this end, a retrospective interview-based Chinese-to-English consecutive interpreting experiment has been carried out, of which the results are as follows. First, both groups adopt repetition, restart, replacement, rephrasing and delayed repair as repair techniques. Second, repair of errors and appropriateness constitute major motivations for self-repair, and repair for output idiomaticity and repair due to errors in the original speech are also observed, enriching the classification of repair motivations in the C-E consecutive interpreting context. Third, in comparison with the student group, the professional interpreters pay more attention to semantic reproduction and are more proficient in syntactic structure conversion, leading to fewer syntactic error repairs and D-repairs in the professional group. The differences in repair models between the two groups can thus be attributed to their varying capabilities in processing syntactic structures and semantic representations.

Mystery of Expansion: DNA Metabolism and Unstable Repeats.

The mammalian genome mostly contains repeated sequences. Some of these repeats are in the regulatory elements of genes, and their instability, particularly the propensity to change the repeat unit number, is responsible for 36 well-known neurodegenerative human disorders. The mechanism of repeat expansion has been an unsolved question for more than 20years. There are a few hypotheses describing models of mutation development. Every hypothesis is based on assumptions about unusual secondary structures that violate DNA metabolism processes in the cell. Some models are based on replication errors, and other models are based on mismatch repair or base excision repair errors. Additionally, it has been shown that epigenetic regulation of gene expression can influence the probability and frequency of expansion. In this review, we consider the molecular bases of repeat expansion disorders and discuss possible mechanisms of repeat expansion during cell metabolism.

Molecular signatures of BRCAness analysis identifies PARP inhibitor Niraparib as a novel targeted therapeutic strategy for soft tissue Sarcomas.

Background: Patients with advanced soft tissue sarcomas (STS) have a dismal prognosis with few effective therapeutic options. A defect in the homologous recombination repair (HRR) pathway can accumulate DNA repair errors and gene mutations, which can lead to tumorigenesis. BRCAness describes tumors with an HRR deficiency (HRD) in the absence of a germline BRCA1/2 mutation. However, the characteristics of BRCAness in STS remain largely unknown. Thus, this study aimed to explore the genomic and molecular landscape of BRCAness using whole exome sequencing (WES) in STS, aiming to find a potential target for STS treatment.Methods: WES was performed in 22 STS samples from the First Affiliated Hospital of Sun Yat-sen University to reveal the possible genomic and molecular characteristics. The characteristics were then validated using data of 224 STS samples from The Cancer Genome Atlas (TCGA) database and in vitro data. The analysis of the potential biomarker for BRCAness was performed. Targeted drug susceptibility and combination therapy screening of chemotherapeutics for STS were evaluated in STS cell lines, cell-line-derived xenografts (CDX), and patient-derived xenografts (PDX).Results: Compared with 30 somatic mutation signatures of cancers, high cosine-similarity (0.75) was identified for HRD signatures in the 22 STS samples using nonnegative matrix factorization. Single nucleotide polymorphism indicated a low mutation rate of BRCA1/2 in the 22 STS samples (11.76% and 5.88%, respectively). However, copy number variation analyses demonstrated widespread chromosomal instability; furthermore, 54.55% of STS samples (12/22) carried BRCAness traits. Subsequently, similar genomic and molecular characteristics were also detected in the 224 STS samples from TCGA and in vitro. Poly (ADP-ribose) polymerases (PARP)-1 could be a promising reflection of HRD and therapeutic response. Furthermore, the level of PAR formation was found to be correlated with PARP-1. Subsequently, STS cell lines were determined to be sensitive to PARP inhibitor (PARPi), niraparib. Moreover, based on the screening test of the five common PARPis and combination test among doxorubicin, ifosfamide, dacarbazine, and temozolomide (TMZ), niraparib and TMZ were the most synergistic in STS cell lines. The synergistic effect and safety of niraparib and TMZ combination were also shown in CDX and PDX.Conclusions: BRCAness might be the common genomic and molecular characteristics of majority of STS cases. PARP-1 and PAR could be potential proper and feasible theranostic biomarkers for assessing HRD in patients. STSs were sensitive to PARPi. Moreover, the combination of niraparib and TMZ showed synergistic effect. Niraparib and TMZ could be a promising targeted therapeutic strategy for patients with STS.

Inborn errors of metabolite repair.

It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely correct. In reality, enzymes are not strictly specific, they often display weak side activities on intracellular metabolites (substrate promiscuity) that resemble their physiological substrate or slowly catalyse abnormal reactions on their physiological substrate (catalytic promiscuity). They thereby produce non‐classical metabolites that are not efficiently metabolised by conventional enzymes. In an increasing number of cases, metabolite repair enzymes are being discovered that serve to eliminate these non‐classical metabolites and prevent their accumulation. Metabolite repair enzymes also eliminate non‐classical metabolites that are formed through spontaneous (ie, not enzyme‐catalysed) reactions. Importantly, genetic deficiencies in several metabolite repair enzymes lead to ‘inborn errors of metabolite repair’, such as L‐2‐hydroxyglutaric aciduria, D‐2‐hydroxyglutaric aciduria, ‘ubiquitous glucose‐6‐phosphatase’ (G6PC3) deficiency, the neutropenia present in Glycogen Storage Disease type Ib or defects in the enzymes that repair the hydrated forms of NADH or NADPH. Metabolite repair defects may be difficult to identify as such, because the mutated enzymes are non‐classical enzymes that act on non‐classical metabolites, which in some cases accumulate only inside the cells, and at rather low, yet toxic, concentrations. It is therefore likely that many additional metabolite repair enzymes remain to be discovered and that many diseases of metabolite repair still await elucidation.

A unique mutator phenotype reveals complementary oncogenic lesions leading to acute leukemia.

Mice homozygous for a hypomorphic allele of DNA replication factor minichromosome maintenance protein 2 (designated Mcm2cre/cre) develop precursor T cell lymphoblastic leukemia/lymphoma (pre-T LBL) with 4-32 small interstitial deletions per tumor. Mice that express a NUP98-HOXD13 (NHD13) transgene develop multiple types of leukemia, including myeloid and T and B lymphocyte. All Mcm2cre/cre NHD13+ mice develop pre-T LBL, and 26% develop an unrelated, concurrent B cell precursor acute lymphoblastic leukemia (BCP-ALL). Copy number alteration (CNA) analysis demonstrated that pre-T LBLs were characterized by homozygous deletions of Pten and Tcf3 and partial deletions of Notch1 leading to Notch1 activation. In contrast, BCP-ALLs were characterized by recurrent deletions involving Pax5 and Ptpn1 and copy number gain of Abl1 and Nup214 resulting in a Nup214-Abl1 fusion. We present a model in which Mcm2 deficiency leads to replicative stress, DNA double strand breaks (DSBs), and resultant CNAs due to errors in DNA DSB repair. CNAs that involve critical oncogenic pathways are then selected in vivo as malignant lymphoblasts because of a fitness advantage. Some CNAs, such as those involving Abl1 and Notch1, represent attractive targets for therapy.

The unstructured linker arms of MutL enable GATC site incision beyond roadblocks during initiation of DNA mismatch repair.

DNA mismatch repair (MMR) maintains genome stability through repair of DNA replication errors. In Escherichia coli, initiation of MMR involves recognition of the mismatch by MutS, recruitment of MutL, activation of endonuclease MutH and DNA strand incision at a hemimethylated GATC site. Here, we studied the mechanism of communication that couples mismatch recognition to daughter strand incision. We investigated the effect of catalytically-deficient Cas9 as well as stalled RNA polymerase as roadblocks placed on DNA in between the mismatch and GATC site in ensemble and single molecule nanomanipulation incision assays. The MMR proteins were observed to incise GATC sites beyond a roadblock, albeit with reduced efficiency. This residual incision is completely abolished upon shortening the disordered linker regions of MutL. These results indicate that roadblock bypass can be fully attributed to the long, disordered linker regions in MutL and establish that communication during MMR initiation occurs along the DNA backbone.

Deep Reinforcement Learning for Syntactic Error Repair in Student Programs

Novice programmers often struggle with the formal syntax of programming languages. In the traditional classroom setting, they can make progress with the help of real time feedback from their instructors which is often impossible to get in the massive open online course (MOOC) setting. Syntactic error repair techniques have huge potential to assist them at scale. Towards this, we design a novel programming language correction framework amenable to reinforcement learning. The framework allows an agent to mimic human actions for text navigation and editing. We demonstrate that the agent can be trained through self-exploration directly from the raw input, that is, program text itself, without either supervision or any prior knowledge of the formal syntax of the programming language. We evaluate our technique on a publicly available dataset containing 6975 erroneous C programs with typographic errors, written by students during an introductory programming course. Our technique fixes 1699 (24.4%) programs completely and 1310 (18.8%) program partially, outperforming DeepFix, a state-of-the-art syntactic error repair technique, which uses a fully supervised neural machine translation approach.

An Adjustable and Fast Error Repair Scrubbing Method Based on Xilinx Essential Bits Technology for SRAM-Based FPGA

Field programmable gate array (FPGA) is becoming more valuable for space applications because of its large density, high performance, reduced development cost and flexible programmability. In particular, static random access memory (SRAM) based FPGA is very valuable for remote missions because of the possibility of being reprogrammed by the user as many times as necessary in a very short period. However, SRAM-based FPGA contains a large number of memory cells which are very sensitive to single event upset (SEU). SEU in SRAM-based FPGA may result in a functional error unless the FPGA is reconfigured. In this paper, we propose a fast adjustable scrubbing method based on Xilinx essential bits technology to mitigate the effect of SEU for SRAM-based FPGA. The whole scrubbing flow contains two sub-flows: partial scrubbing and entire scrubbing. This scrubbing method not only increases the speed of repairing an error for user design, but also ensures the reliability of whole FPGA design. We test the proposed scrubbing method through fault injection. Finally, we show the error repair speeds of user designs for different repeat cycles of partial scrubbing and summarize the optimized repeat cycles of partial scrubbing.

A meiosis-specific BRCA2 binding protein recruits recombinases to DNA double-strand breaks to ensure homologous recombination

Homologous recombination (HR) repairs DNA double-strand breaks (DSBs) to maintain genomic integrity. Recombinase recruited to the DSBs by the mediator protein BRCA2 catalyzes the homology-directed repair. During meiotic HR, programmed DSBs are introduced genome-wide but their repair mechanisms, including the regulation of BRCA2, have remained largely elusive. Here we identify a meiotic localizer of BRCA2, MEILB2/HSF2BP, that localizes to the site of meiotic DSBs in mice. Disruption of Meilb2 abolishes the localization of RAD51 and DMC1 recombinases in spermatocytes, leading to errors in DSB repair and male sterility. MEILB2 directly binds to BRCA2 and regulates its association to meiotic DSBs. We map the MEILB2-binding domain within BRCA2 that is distinct from the canonical DNA-binding domain but is sufficient to localize to meiotic DSBs in a MEILB2-dependent manner. We conclude that localization of BRCA2 to meiotic DSBs is mediated by MEILB2, which is an integral mechanism to repair abundant meiotic DSBs.

A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome?

One of the traits most consistently seen in females with Turner syndrome is premature ovarian insufficiency (POI). The biological mechanisms underlying the germ cell atresia that leads to infertility in most women with Turner syndrome are unclear. Given that telomeres are important for proper chromosomal pairing and other early steps in meiosis and oogenesis, one can conjecture that perturbations in telomere length and/or function might contribute to the POI associated with Turner syndrome. Also, one can speculate that epigenetic modifications that arise in response to asynapsis, as well as the resetting of the epigenome during embryogenesis, could contribute to monosomy X-related germ cell atresia. Moreover, errors in recombination-based DNA repair might contribute to the failure of cells lacking all, or a portion of, a second sex chromosome to successfully complete oogenesis. This article presents a review of the extant literature related to telomere length and/or epigenetic patterns associated with POI in females with a monosomy X complement (in humans and animal models). A goal of this review is to inspire researchers to use new technological advances to better characterize the components of the biological cascade leading to early germ cell loss in females with Turner syndrome.

Tolerating C Integer Error via Precision Elevation

In C programs, integer error is a common yet important kind of defect due to arithmetic operations that produce unrepresentable values in certain types. Integer errors are harbored in a wide range of applications and possibly lead to serious software failures and exploitable vulnerabilities. Due to the complicated semantics of C, manually preventing integer errors is challenging even for experienced developers. In this paper we propose a novel approach to automate C integer error repair by elevating the precision of arithmetic operations according to a set of code transformation rules. A large portion of integer errors can be repaired by recovering expected results (i.e., tolerance) instead of removing program functionality. Our approach is fully automatic without requiring code specifications. Furthermore, the transformed code is ensured to be well-typed and has conservativeness property with respect to the original code. Our approach is implemented as a prototype CIntFix which succeeds in repairing all the integer errors from 7 categories in NIST's Juliet Test Suite. Furthermore, CIntFix is evaluated on large code bases in SPEC CINT2000, scaling to 366 KLOC within 126 seconds while the transformed code has 10.5 percent slowdown on average. The evaluation results substantiate the potential of our approach in real-world scenarios.

Efficient automated repair of high floating-point errors in numerical libraries

Floating point computation is by nature inexact, and numerical libraries that intensively involve floating-point computations may encounter high floating-point errors. Due to the wide use of numerical libraries, it is highly desired to reduce high floating-point errors in them. Using higher precision will degrade performance and may also introduce extra errors for certain precision-specific operations in numerical libraries. Using mathematical rewriting that mostly focuses on rearranging floating-point expressions or taking Taylor expansions may not fit for reducing high floating-point errors evoked by ill-conditioned problems that are in the nature of the mathematical feature of many numerical programs in numerical libraries. In this paper, we propose a novel approach for efficient automated repair of high floating-point errors in numerical libraries. Our main idea is to make use of the mathematical feature of a numerical program for detecting and reducing high floating-point errors. The key components include a detecting method based on two algorithms for detecting high floating-point errors and a repair method for deriving an approximation of a mathematical function to generate patch to satisfy a given repair criterion. We implement our approach by constructing a new tool called AutoRNP. Our experiments are conducted on 20 numerical programs in GNU Scientific Library (GSL). Experimental results show that our approach can efficiently repair (with 100% accuracy over all randomly sampled points) high floating-point errors for 19 of the 20 numerical programs.

Repair and Restoration of Corrupted LZSS Files

Data compression and decompression have been widely used in modern communication and data transmission. But how to decompress the corrupted lossless compressed files remains a challenge. Aiming at the Lempel-Ziv-Storer-Szymanski (LZSS), a lossless data compression algorithm widely used in the field of general coding, this paper proposes an effective method to repair the errors and decompress and restore the corrupted LZSS files, and provides the theoretical basis for the method. By using the residual redundancy left by the LZSS encoder to carry the check information, the method can repair the errors in LZSS compressed data without any loss of compression performance. The proposed method neither requires additional bits nor changes coding rules or data formats. It is fully compatible with standard algorithms. That is, the data compressed by LZSS with error repair capability can still be decompressed by the standard LZSS decoder. The experimental results verify the validity and practicability of the proposed method.

Delayed Presentation Of Missed Vascular Injuries And Pitfalls In Primary Treatment– Experience Of A Vascular Surgery Unit In Pakistan

Objective: To analyze errors in primary treatment of vascular injuries and delayed presentations of missed vascular injuries as a surrogate indicator of need for improved vascular surgical training of upcoming general surgeons. Materials and methods: This retrospective observational study was carried out at vascular surgery department of two tertiary care hospitals of Armed Forces from Jan 2012 to June 2017. Hospital records of all patients with vascular trauma were analyzed for presence of pitfalls in primary treatment and delayed presentation of missed vascular injuries which resulted in redo surgeries or adverse outcomes. Results: Out of 256 patients with vascular injury sequel 41 had either a problem in primary treatment or presented with delayed complications of missed injuries. The omissions can be divided into: missed injuries (24/41), technical errors in initial repair (12/24), reperfusion of mangled Extremity (3/41) and non availability of a surgeon capable of undertaking vascular repair. The commonest operative fault was failure to debride the vessel adequately and vascular repair under tension. The commonest primary assessment problem was failure to timely appreciate hard signs of vascular injury. Conclusion: With better training and emphasizing the need of thorough clinical examination outcome of vascular trauma can be improved.

АНАЛИЗ ПРИЧИН ВЫХОДА ИЗ СТРОЯ ТРАНСФОРМАТОРОВ 110 кВ И МЕТОДЫ ИХ ДИАГНОСТИРОВАНИЯ

The article deals with the diagnostics of power transformers by different methods. Particular attention is paid to modern methods and diagnostic tools that maximally allow to determine the state of the transformer. Based on the statistical processing of the results of the research, the authors indicate that the most common failures are: damage to the windings of transformers with the possibility of regulation under load, without disconnecting power and leaving consumers without power supply (RPN) for any period of operation. The greatest number of damages for transformers with on-load tap-changers with a service life of 10-30 years, for high-voltage bushings after 10 years of operation. The most severe damage to the transformer is an internal short circuit (short circuit). These types of overvoltage cause damage to the windings in 80% of the total number of damage, high-voltage bushings - 89%, RPN - 25% and other elements - 36%. It is indicated that a serious consequence occurs when such defects develop, as: the reduction of the electrical strength of the oil channel of high-voltage hermetic bushings due to deposition of sediment on the inner surface of porcelain and on the surface of internal insulation; reduction of the electrical strength of paper-oil insulation of high-voltage leaky inlets due to moisture and pollution; humidification, contamination and wear (aging) of the insulation of the windings; burn-out of the coil insulation and windings of the windings because of the long non-operation of the through-current fault on the low-voltage side of the transformer; errors in installation, repair and operation. In the conclusions it is recommended to supply the manufacturers of power transformers with means for diagnosing the main elements of power transformers, which should be built-in. Particular mention was made of the need to focus in the future on improving existing and creating new methods for monitoring equipment of power transformers.

A MOLECULAR-BASED APPROACH TO INVESTIGATE BREAST CANCER 1 AND BREAST CANCER 2 STATUS IN OVARIAN CANCER AMONG IRAQI WOMEN

Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total of 25 subjects were chosen for the genetic studies, and three groups were recruited: fifteen ovarian cancer patients group, five healthy controls, and five first-degree relatives to a known case of ovarian cancer patients.Results: A genetic analysis revealed that a strong correlation exists between both gene mutations’ status in ovarian cancer, and BRCA gene mutations (185delAG, 5382insC, and 4153delA in BRCA1 and 6174delT in BRCA2) remained to establish to have a relatively high frequency among people in this study among ovarian cancer patients. Furthermore, seven patients with ovarian cancer carried all of the four investigated mutations, and five had three mutations.Conclusion: Otherwise, BRCA gene frequency showed low prevalence among first-degree relatives, and to a lesser extent among healthy controls, with only a few had all of the mutations combined. These data demonstrate for the first time a molecular link between BRCA1 and BRCA2 mutations in ovarian cancer progression in Iraq.