BRCA2 positive

However, implementing these advanced treatment guidelines in LMICs with complex, fragmented and underfunded healthcare systems presents numerous challenges. In this review, we explore the current status and obstacles associated with managing BRCA1/2-associated breast cancer in LMICs.

HRD positive tumours were specifically of high-grade morphology: HGSC and carcinosarcoma. The correlation of molecular status with histological features is important in order to be able to select the cases in which analysis is required. The majority of HGSCs with SET features are HRD tumours independently of BRCA status.

In conclusion, miR-1273g-3p, and miR-3135b exhibit significant potential as diagnostic markers. However, further research is needed to comprehensively investigate these miRNAs diagnostic and predictive characteristics in a larger cohort.

Almost 70-80% of BRCA2-mutated BC are estrogen receptor (ER)-positive, which is a particular type of ER-positive BC that differs from sporadic ER-positive BC. This article reviews the clinicopathological features, treatment, and prognosis of ER-positive and BRCA2-mutated BC to provide a reference for clinical decision-making.

BRCA1/2 mutations occurred in 6.6% of patients with HER2/neu-positive BC and did not affect survival outcomes. Assessing the potential benefits of new treatment strategies, such as combining anti-HER2/neu therapies with poly(ADP-ribose) polymerase inhibitors, may lead to enhanced outcomes for these patients.

Fifty percent of BRCA1/2 positive women in our study had not undergone annual imaging-based surveillance by mammography or MRI, and none had undergone annual dual screening with mammography and MRI, indicating inadequate breast cancer surveillance in this high-risk group.

PGT-M is a viable option for BRCA-positive patients to avoid transmission while building their families. Most patients in our cohort achieved pregnancy with BRCA-negative euploid embryos.

We encountered a case in which cancer treatment and risk-reducing surgery were performed at the same time for a pathogenic variant carrier who was very anxious about developing cancer. Surveillance of cancer-free BRCA1/2 mutation carriers and expansion of insurance coverage for surgery are important future issues.

BRCA1/2-positive breast cancer with DCIS components is more likely to be hormone receptor-positive and of lower grade compared to patients with IDC only. A tailored approach might be necessary in establishing treatment options for breast cancer patients with BRCA1/2 mutations according to the presence of DCIS.

This is the biggest cohort presented in the Portuguese population and one of the biggest presenting BRCA2 BC patients. Table 1 Characteristics of patients according to BRCA1/2 mutation status (n = 684)

Although this study did not meet its primary endpoint, there were 2 TNBC patients without a gBRCA1/2 mutation who achieved a partial response to this non-chemotherapy regimen. Future biomarker testing may help elucidate these findings and possible predictors of response.

This study profiles HRD status in the Indian population. It underscores the fact that BRCA1/2 mutational analysis alone cannot capture HRD positivity. Importantly, using an expanded HR panel did not identify additional mutations as potential causes of the observed HRD.

This Quality Initiative to improve testing and identification of HRR mutations in patients with mCRPC led to a 33% relative increase in HRR testing, demonstrating how QI programs can transform care and move the field toward individualized, precision medicine.

HR <1 (bold) favors NIRA+AAP treatment; Nominal p-value is from a non-stratified log-rank test. Conclusions Longer follow-up of the Asian subgroup confirms initial observations of a benefit from NIRA+AAP in BRCA+ mCRPC pts, which is consistent with the overall MAGNITUDE study results.

Lin's concordance correlation coefficient for the 24 samples simultaneously examined via both assays was 0.87, indicating a nearly perfect agreement. In conclusion, the addition of gLOH analysis could assist in the detection of additional patients eligible for treatment with PARPis.

Two metastatic patients were treated with endocrine therapy and Palbociclib...Radical mastectomy associated with axillary dissection was mostly performed given the high incidence of positive lymph nodes. Given the paucity of clinical studies available, therapy aimed at treating advanced or metastatic cancer still follows the same indications available for patients with female breast cancer.

Approximately one in ten patients with HR+/HER2-, and half of the patients with TNBC, meet the high-risk criteria according to OlympiA. Half of these patients do not meet the criteria for hereditary cancer testing and should therefore be tested for the presence of gBRCA1/2 mutations, irrespective of their own or family cancer history. The overall number of patients with early breast cancer benefiting from olaparib needs to be investigated in future studies.

Palliative chemotherapy was initiated with FOLFIRINOX to treat the metastatic disease, with improvement in the breast mass and decline in CA 19-9 antigen after 9 cycles... This case highlights the importance of discovering and utilizing novel targeted therapies when faced with cancers arising from germline mutations such as the BRCA2 gene. Although not FDA-approved for the treatment or maintenance of BRCA2-positive breast cancer, Olaparib has been effective thus far in controlling the progression of both Stage IV pancreatic adenocarcinoma and improving the stage III IDC in this patient.

Associations with poverty status, education, and healthcare discrimination outcomes were not statistically significant. Improving patient-provider interactions that can contribute to medical mistrust should become a priority for the care of high-risk US minority women with BRCA1/2 mutations.

This study provided significant information regarding rare variants observed in the Turkish population because it was carried out with a large patient group. Personalized treatment options and genetic counseling for the patients are therefore made facilitated.

We investigated the HRD status among Chinese BC patients using an HRD detection tool developed based on the Chinese population. The clinical characteristics, pathological profile, family history pattern, neoadjuvant efficacy, and disease progression events of HRD-positive and negative patients were described and compared. Thus, our data provided an evidence-based basis for applying the original HRD assay in Chinese BC.

A total of 23 differentially expressed miRNAs, 12 up-regulated and 11 down-regulated, were found in non-BRCA compared to BRCA cases. Among them, 12 miRNAs were also differentially expressed between non-BRCA cases and control group, thus representing a specific miRNA expression pattern of non-BRCA patients; ROC curves showed very good diagnostic accuracy (mean AUC 0.80; p-value<0.05), suggesting that this miRNA-panel could potentially be used as diagnostic/predictive signature in hereditary-familial non-BRCA BC/OC.ConclusionOverall, these results suggest that the analysis of circulating miRNAs expression levels, based on the BRCA1/2 germline mutational status, could provide important information for characterizing and putatively distinguishing familial-hereditary BC/OC cases, particularly non-BRCA group, and might be considered as potentially applicable in screening and prevention programs.

The most frequent non-BRCA mutations were found in CHEK2, ATM, and PALB2, and several recurrent variants were identified for each gene. Unlike other European countries, germline testing for HBC is still limited due to the high costs and is not covered by the National Health System (NSH), thus leading to significant discrepancies related to the screening and prophylaxis of cancer.

In the surveillance of BRCA mutation carriers, radiologists should be aware that the morphological differences between tumors are quite different between BRCA1 and BRCA2 patients.

In this study, we define the role of BRCA1/2 mutations as a significant risk factor in the development of BIA-ALCL in patients with BC reconstructed with textured implants. These results will help decision making for women with BRCA1/2 mutations undergoing breast reconstruction, or with textured implants in place. Analysis of pathogenic variants in other DNA repair genes in this cohort potentially affecting lymphomagenesis is ongoing.

This quality initiative to improve testing and identification of HRR mutations in patients with mCRPC led to a 33% relative increase in HRR testing. Quality initiative programs are critical to transforming cancer care and moving the field closer toward individualized, precision medicine.

WES revealed 6 patients were candidates for cystic fibrosis transmembrane conductance (CFTR) modulator therapy most commonly via the identification of known CFTR mutation considered to be pathogenic.3 patients (18%) were positive for BRCA1&2 genetic abnormalities associated with high risk for breast cancer.DISCUSSIONThe use of whole exome sequencing in patients presenting to a tertiary asthma referral center identifies both known and novel genetic variants that improve clinicians understanding of the patient’s clinical phenotype and may significantly change the clinical management. WES shouldbe considered in addition to standard diagnostic evaluation in patients with severe asthma who have radiographic abnormalities with minimal response to standard therapies.

Our PSA50 analyses revealed that all the three first-line treatments have therapeutic effect in BRCA1/2 positive mCRPC; although, based on the results of PSA50 and PFS analyses, BRCA positive mCRPC patients might better respond to enzalutamide treatment. However, molecular marker-driven interventional studies directly comparing these agents are crucial for providing higher-level evidence.

32 mutated, 19 negative and 15 were missed as they were unable to say or remember the result. Only 51 healthy males, with at least one female DRG mutated relative, were interested to be tested. This means that out of 378 men relatives of patients with DRG mutations, only 117 had already been tested or decided to do it with us, so 117/378 (31%) wanted to know whether they carried the mutation.

P3, N=216, Terminated, Tesaro, Inc. | Completed --> Terminated; The study was terminated due to futility.

There was no significant difference in the MRI findings between patients with HGSCs with and without BRCA variants. Although studied in small numbers, BRCA1 variant-positive HGSCs were larger and more enhanced than BRCA2 variant-positive HGSCs with higher CA125 and more frequent lymph node metastases, and may represent more aggressive features.

Nivolumab plus rucaparib is active in patients with HRD-positive postchemotherapy or chemotherapy-naïve mCRPC, particularly those harboring BRCA1/2 mutations. Safety was as expected, with no new signals identified. Whether the addition of nivolumab incrementally improves outcomes versus rucaparib alone cannot be determined from this trial.

We showed that, in France, BRCA2 and ATM are the main predisposing DDR genes in mPC patients, with a particular aggressiveness for BRCA2 leading to early metastatic stage and death.

This study provides insight into how a sample of BRCA1/2-positive women both with and without cancer fare post-genetic counseling as compared to three normative female populations. Results infer the need for additional education, patient-provider training, and mental health referrals to support this population in order to circumvent unintended consequences and to improve psychosocial health in those being tested for, and those who test positive for, BRCA1/2 genetic mutations.

Conclusion This study revealed a high prevalence of Aflatoxin B1 and loss of BRCA2 gene among patients with adenocarcinoma of the Colon in Southern Nigeria. Individuals with both toxin and BRCA2 mutation should be closely monitored for the development of the disease.

In silico analysis of target/pathway genes of the differentially expressed miRNAs revealed an enrichment of genes involved in different cancer types (e.g. prostate, lung, melanoma) and key biological processes, including cell cycle, apoptosis, focal adhesion and growth factor signaling pathways. Conclusion Overall, these preliminary results suggest that the analysis of the expression levels of circulating miRNAs in familial-hereditary BCs, based on the BRCA1/2 germline mutational status, could provide, once extended and confirmed on a larger number of patients, important information for characterizing and putatively distinguishing familial BRCA and non-BRCA BCs, and might be considered as potentially applicable in screening and prevention programs.

Ultrasensitive liquid biopsy enables detection of pathogenic BRCA1/2 alterations in plasma cfDNA of lung adenocarcinomas, despite low VAFs. Retrospective analysis suggests a difference in cfDNA mutational profiles in BRCA1/2 mutants, warranting further investigation on the role of BRCA1/2, HRD, and correlation with ICI treatment response in lung adenocarcinoma.

Two subthemes also emerged within the first theme, which are termed "Pre-vivor," and "Testing Intuition." Participants indicated that genetic testing/counseling improvements would be helpful for women in this population surrounding quality care, including sensitivity training for healthcare professionals involved in testing/counseling, additional educational resources, and increased emotional and financial support. Although these recommendations may be beneficial, more widespread research with greater generalizability to disparate groups may be necessary prior to implementation.

On a theoretical level, our findings partially supported the Health Action Process Approach as a valuable model based on which interventions could be developed in the context of cascade screening for BRCA1/2 genetic testing. Those results supported the importance of integrated genetic counselling sessions with a strict collaboration between geneticists and psychologists together with interventions planned to increase men's self-monitoring ability to support their self-efficacy.

P=N/A, N=60, Completed, Lawson Health Research Institute | Active, not recruiting --> Completed

Furthermore, since much of the research on the lived experiences of BRCA1/2 has been on highly-educated, non-Hispanic white women, few studies have focused entirely on medically-underserved populations, which was the entirety of our sample. This work adds an important intersectional lens in which to better understand the experiences of living with a BRCA1/2 mutation.

Our study identifies disparities in genetic testing resources among women living in suburban and rural areas. These findings can be used to inform future care, research, and community resources that may impact services relating to genetic testing within these locales.