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Background: Breast cancer is an uncontrolled and unnatural proliferation of cells in different breast tissues. The first measure to diagnose breast cancer is an examination by a surgeon followed by mammography, sonography, sampling, and other diagnosing methods. Given that there are several methods to diagnose breast cancer, and most of them are quite expensive, the present systematic review compares the expenses and effectiveness of different methods to diagnose breast cancer. Methods: The study was carried out as a systematic review through searching databases, i.e., PubMed, Web of Science, Magiran, Scopus, and Embase for articles published from March 1999 to May 31, 2017. The research articles regarding health technology assessment and economic assessment (n = 8) were examined. Results: Generally, conducting MRI screening and digital mammography every six months after the age of 30 are proved to be the most efficient and economical methods to screen carriers of BRCA (BReast CAncer) mutated genes. Besides, implementing both the techniques simultaneously was more cost-efficient with BRCA1 compared to BRCA2. Some studies have revealed that genetic tests and Oncotype tests, in particular, were the most cost-efficient methods to diagnose the disease, especially in its early stages. Conclusion: Consequently, indexing gene expression in individuals with BRCA gene mutation is revealed to more cost-efficient.

Breast cancer (BC) is the most common cancer and the primary cause of cancer death. About 5 to 10% of breast cancer cases have a hereditary background. BRCA-related breast cancer is characterized by more aggressive phenotype than sporadic breast cancer. Olaparib is one of the drugs that can improve the results of treatment in this group of patients. Several phase I and II trials have shown that PARP inhibitors are effective as monotherapy in patients with metastatic breast cancer and germline BRCA1/2 mutation. A randomized, open-label, phase III trial (the OlympiAD study) comparing olaparib monotherapy and standard treatment in patients with HER2-negative mBC and a germline BRCA1/2 mutation showed hopeful results. The olaparib group registered an objective response of 59.9% compared to 28.8% in the standard therapy. A complete response was reported for 9.0% of patients in the olaparib group and 1.5% in the standard therapy group. A clinical case of treatment of a triple-negative breast cancer patient with BRCA1 c.5382insC (rs80357906) mutation is presented. There was a response to over 9-month olaparib therapy after progression on two systemic chemotherapy lines. The pedigree of the patient was also considered, her relatives with malignant tumours were identified. Screening tests were done to detect the patient’s relatives with a germline mutation in the BRCA1 gene. More thorough tests are planned to be done for early detection of malignant neoplasms in the identified healthy relatives with BRCA1 c.5382insC mutation.

Abstract Background In this study we aimed to identify a prognostic signature in BRCA1/2 mutations to predict disease progression and the efficiency of chemotherapy ovarian cancer (OV), the second most common cause of death from gynecologic cancer in women worldwide. Methods Univariate Cox proportional-hazards and multivariate Cox regression analyses were used to identifying prognostic factors from data obtained from The Cancer Genome Atlas (TCGA) database. The area under the curve of the receiver operating characteristic curve was assessed, and the sensitivity and specificity of the prediction model were determined. Results A signature consisting of two long noncoding RNAs(lncRNAs), Z98885.2 and AC011601.1, was selected as the basis for classifying patients into high and low-risk groups (median survival: 7.2 years vs. 2.3 years). The three-year overall survival (OS) rates for the high- and low-risk group were approximately 38 and 100%, respectively. Chemotherapy treatment survival rates indicated that the high-risk group had significantly lower OS rates with adjuvant chemotherapy than the low-risk group. The one-, three-, and five-year OS were 100, 40, and 15% respectively in the high-risk group. The survival rate of the high-risk group declined rapidly after 2 years of OV chemotherapy treatment. Multivariate Cox regression associated with other traditional clinical factors showed that the 2-lncRNA model could be used as an independent OV prognostic factor. Analyses of data from the Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) indicated that these signatures are pivotal to cancer development. Conclusion In conclusion, Z98885.2 and AC011601.1 comprise a novel prognostic signature for OV patients with BRCA1/2 mutations, and can be used to predict prognosis and the efficiency of chemotherapy.

Breast cancer susceptibility 1/2 (BRCA1/2) genes play a crucial role in DNA damage repair, yet mutations in these genes increase the susceptibility to tumorigenesis. Exploiting the synthetic lethality mechanism between BRCA1/2 mutations and poly(ADP-ribose) polymerase (PARP) inhibition has led to the development and clinical approval of PARP inhibitor (PARPi), representing a milestone in targeted therapy for BRCA1/2 mutant tumors. This approach has paved the way for leveraging synthetic lethality in tumor treatment strategies. Despite the initial success of PARPis, resistance to these agents diminishes their efficacy in BRCA1/2-mutant tumors. Investigations into PARPi resistance have identified replication fork stability and homologous recombination repair as key factors sensitive to PARPis. Additionally, studies suggest that replication gaps may also confer sensitivity to PARPis. Moreover, emerging evidence indicates a correlation between PARPi resistance and cisplatin resistance, suggesting a potential overlap in the mechanisms underlying resistance to both agents. Given these findings, it is imperative to explore the interplay between replication gaps and PARPi resistance, particularly in the context of platinum resistance. Understanding the impact of replication gaps on PARPi resistance may offer insights into novel therapeutic strategies to overcome resistance mechanisms and enhance the efficacy of targeted therapies in BRCA1/2-mutant tumors., (© 2024 Wiley Periodicals LLC.)

In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.

Objective: To investigate BRCA1 / 2 gene mutations and their relationship with clinicopathological features in patients with breast cancer in Zhoushan Islands., Methods: High-throughput whole-exome gene sequencing was used to detect BRCA1 / 2 mutations in 776 breast cancer patients in Zhoushan Islands., Results: The BRCA1 / 2 mutation rate of breast cancer patients in Zhoushan Islands was 4.38% (34/776). BRCA1 mutations were significantly correlated with age, molecular type, and family history of breast and ovarian cancers. BRCA2 mutations were most commonly found in invasive lobular carcinoma. Moreover, the BRCA2 mutation rate of cancers with molecular type luminal B (receptor protein-tyrosine kinase [HER2]-negative) was also relatively high., Conclusion: The rate of BRCA1 / 2 mutations in breast cancer patients from Zhoushan Islands is approximately 4.38%, and BRCA1 mutation is related to age, molecular type, and family history of breast and ovarian cancers., Competing Interests: Declaration of conflicting interestsThe authors declare that there is no conflict of interest.

Objective To investigate the knowledge and willingness of genetic counseling and testing in blood relatives of breast cancer patients. Methods A total of 922 blood relatives of breast cancer patients finished our questionnaire. Data were devided into different groups according to age, family history of tumor for statistical analysis. Results Most of the respondents were unaware of genetic counseling and genetic testing. However, after a brief introduction, major of them were willing to accept genetic counseling，breast cancer risk evaluation and screening. Specifically? 79. 8% of them were willing to accept genetic counseling, and 62. 3% were willing to accept genetic testing. Most of the respondents would accept inexpensive early genetic screening. For the genetic testing with higher prices, only 37. 9% of them would accept it. Supposing a positive genetic testing result, most of them were willing to perform prevention through close follow-upscreening, 31.3% of them would choose prophylactic surgery or drugs. Despite being told the confidentiality of the test results, 32.9% of them worried about the adverse effects of genetic test . Conclusions Most of the blood relatives of breast cancer patients were unaware of counseling and genetic testing, but had apparent willingness to accept them. Misunderstanding of genetic characteristics，costs and concerning about discrimination are obstacles for the respondents to accept genetic counseling，genetic testing and related screening prevention. [ABSTRACT FROM AUTHOR]

Background: In this study we aimed to identify a prognostic signature in BRCA1/2 mutations to predict disease progression and the efficiency of chemotherapy ovarian cancer (OV), the second most common cause of death from gynecologic cancer in women worldwide. Methods: Univariate Cox proportional-hazards and multivariate Cox regression analyses were used to identifying prognostic factors from data obtained from The Cancer Genome Atlas (TCGA) database. The area under the curve of the receiver operating characteristic curve was assessed, and the sensitivity and specificity of the prediction model were determined. Results: A signature consisting of two long noncoding RNAs(lncRNAs), Z98885.2 and AC011601.1, was selected as the basis for classifying patients into high and low-risk groups (median survival: 7.2 years vs. 2.3 years). The three-year overall survival (OS) rates for the high- and low-risk group were approximately 38 and 100%, respectively. Chemotherapy treatment survival rates indicated that the high-risk group had significantly lower OS rates with adjuvant chemotherapy than the low-risk group. The one-, three-, and five-year OS were 100, 40, and 15% respectively in the high-risk group. The survival rate of the high-risk group declined rapidly after 2 years of OV chemotherapy treatment. Multivariate Cox regression associated with other traditional clinical factors showed that the 2-lncRNA model could be used as an independent OV prognostic factor. Analyses of data from the Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) indicated that these signatures are pivotal to cancer development. Conclusion: In conclusion, Z98885.2 and AC011601.1 comprise a novel prognostic signature for OV patients with BRCA1/2 mutations, and can be used to predict prognosis and the efficiency of chemotherapy. [ABSTRACT FROM AUTHOR]