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1

Mahaparea, APK., G. Srinivas, D.V. Ramanjaneyulu, et al. "An Important Parameters of Benign Mesothelioma Include Etiology, Histopathology, Pathophysiology, Diagnosis, Differential Diagnosis and Treatment." Journal of Research and Applications in Pharmacy Practices 1, no. 1 (2025): 7–16. https://doi.org/10.5281/zenodo.15362187.

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<em>Usually found in the pleura, but occasionally occurring in the peritoneum, pericardium, and other tissues, benign mesothelioma is an uncommon, non-cancerous tumour that develops from mesothelial cells that coat the surfaces of many organs. Benign types of mesotheliomas do not have a proven connection to asbestos exposure, in contrast to malignant forms. In any case, they could arise as a result of other stressors, such as inflammation or mechanical damage.</em> <em>Patients usually have vague symptoms when they first arrive, such as chest pain, abdomen pain, and maybe a pleural effusion. H
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Wu, YN, CL Thompson, and FR Schumacher. "Epigenetic Aging Differs By Race, Subtype and Social Vulnerability Index in Breast Cancer Patients." Cancer Epidemiology, Biomarkers & Prevention 32, no. 6 (2023): 861. http://dx.doi.org/10.1158/1055-9965.epi-23-0366.

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Purpose: Although breast cancer (BrCa) disparities by age of onset, subtype and mortality are well recognized between Black and White women, the underlying causes remain unknown. We were interested in the impact of methylation on racial disparities, BrCa subtypes and social vulnerability index (SVI). Methods: A whole-genome methylation array was used with DNA extracted from blood samples from women diagnosed with BrCa. After quality control, 158 BrCa patients were included. The biological age and epigenetic age acceleration, defined as the residual from regressing chronological and biological
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Wu, Yanning, Megan E. Miller, Hannah L. Gilmore, Cheryl L. Thompson, and Fredrick R. Schumacher. "Epigenetic aging differentially impacts breast cancer risk by self-reported race." PLOS ONE 19, no. 10 (2024): e0308174. http://dx.doi.org/10.1371/journal.pone.0308174.

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Background Breast cancer (BrCa) is the most common cancer for women globally. BrCa incidence varies by age and differs between racial groups, with Black women having an earlier age of onset and higher mortality compared to White women. The underlying biological mechanisms of this disparity remain uncertain. Here, we address this knowledge gap by examining the association between overall epigenetic age acceleration and BrCa initiation as well as the mediating role of race. Results We measured whole-genome methylation (866,238 CpGs) using the Illumina EPIC array in blood DNA extracted from 209 w
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Wang, Haocen, Lei-Shih Chen, Hsin-Yi Hsiao, et al. "Chinese American and Non-Hispanic White Breast Cancer Patients’ Knowledge and Use of BRCA Testing." International Journal of Environmental Research and Public Health 20, no. 4 (2023): 3384. http://dx.doi.org/10.3390/ijerph20043384.

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Breast cancer is the most commonly diagnosed cancer among Chinese American women. Knowing the BRCA1 and BRCA2 (BRCA1/2) gene mutation status can improve breast cancer patients’ health outcomes by guiding targeted treatment towards preventing breast cancer recurrence and other BRCA-related cancers. Nevertheless, it is unclear if there is a disparity in knowledge and use of BRCA testing among Chinese American breast cancer patients. This cross-sectional study investigated the possible presence of differences in the knowledge and the use of BRCA testing between Chinese American and Non-Hispanic W
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Wu, Yanning, Cheryl L. Thompson, and Fredrick R. Schumacher. "Abstract 3676: Race-specific methylation profiles and epigenetic age acceleration differentiates estrogen receptor status breast cancer." Cancer Research 82, no. 12_Supplement (2022): 3676. http://dx.doi.org/10.1158/1538-7445.am2022-3676.

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Abstract Breast cancer (BrCa) is the second most common cancer among women in the U.S.. Black women with BrCa, on average, have an earlier age of onset, more aggressive subtypes and experience higher mortality compared with White women. Although the underlying causes remain unknown, genetic and lifetime exposures are hypothesized. Here, we utilize blood-based whole-genome methylation arrays to: (1) discover CpG probes related to BrCa receptor status, (2) identify biological pathways driving BrCa subtype disparities, and (3) quantify epigenetic age acceleration differences by race and receptor
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Jin, Yanling, Charlotta Fruchtenicht, Sylvia Hu, et al. "Association of electronic-health record (EHR)-derived race with BRCA testing in patients (pts) with breast cancer (BC) with similar genetic ancestry (GA) in a clinicogenomic database (CGDB)." Journal of Clinical Oncology 39, no. 15_suppl (2021): 6524. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.6524.

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6524 Background: Disparities in health outcomes can be affected by biological factors associated with GA and social determinants of health. These factors can be teased apart using GA data from comprehensive genomic profiling (CGP) in pts with cancer. CGDBs that link EHR data with CGP enable the selection of pts with similar GA. Holding GA constant provides an opportunity to directly study the effects of reported race in health disparities. This study evaluated a published racial disparity (BRCA testing rates in African American [AA] vs White pts with BC) in a population with fixed, similar GA.
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Kyaw, Nay Yee Wint, Theresa Durana, Vijaya Natarajan, and Yiqing Xu. "The race, staging and clinical correlations with genetic mutations detected in breast cancer patients." Journal of Clinical Oncology 41, no. 16_suppl (2023): e12547-e12547. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e12547.

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e12547 Background: Genetic testing has been applied widely in oncology and guidelines and criteria have been established for selection of testing. We aimed to study the variants of genetic mutations detected in a cohort of breast cancer patients of multiple ethnicity background, and its pathoclinical correlations. Methods: Breast cancer patients who have had a genetic test performed between 1/1/2010 until 1/31/2022 were eligible. Results: Among 767 patients tested, 77 patients were found to have germline mutations, including BRCA 1 (n = 20), BRCA 2 (n = 19), PALB2 (n = 12), CHEK 2 (n = 6), ATM
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Sims, Travis T., Anil K. Sood, Shannon Neville Westin, et al. "Correlation of HRD status with clinical and survival outcomes in patients with advanced-stage ovarian cancer." Journal of Clinical Oncology 39, no. 15_suppl (2021): 5568. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.5568.

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5568 Background: Nearly 50% of patients with high grade ovarian cancer (HGOC) harbor a germline or somatic mutation in BRCA1/BRCA2 or have tumors characterized by homologous recombination deficiency (HRD). HRD is associated with response to poly(ADP-ribose) polymerase inhibitors (PARPi) in HGOC. Although PARPi show great promise, there is interest in investigating how HRD status affects outcomes and can be used to objectively tailor other treatment strategies. We aimed to compare clinical and survival outcomes in HGOC stratified by HRD status. Methods: We performed a retrospective analysis of
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Law, Jeanna Wallenta, Hanadi BuAli, Sherri Costa, et al. "Abstract P3-14-17: Exploring racial disparities in BRCA testing for triple negative breast cancer patients: A real-world data analysis." Cancer Research 82, no. 4_Supplement (2022): P3–14–17—P3–14–17. http://dx.doi.org/10.1158/1538-7445.sabcs21-p3-14-17.

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Abstract Background and Objective: BRCA testing for patients (pts) with triple negative breast cancer (TNBC) is important because it has secondary prevention implications for patients and multigenerational implications allowing for earlier detection of BRCA gene carriers in the family and enabling primary prevention. And with the advent of PARP inhibitors it also has treatment implications. The NCCN guidelines recommended in January 2015 that BRCA testing be performed for all pts with TNBC diagnosed at age 60 or younger regardless of race, ethnicity or family history. To understand disparities
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Hall, Michael J., and Olufunmilayo I. Olopade. "Disparities in Genetic Testing: Thinking Outside the BRCA Box." Journal of Clinical Oncology 24, no. 14 (2006): 2197–203. http://dx.doi.org/10.1200/jco.2006.05.5889.

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The impact of predictive genetic testing on cancer care can be measured by the increased demand for and utilization of genetic services as well as in the progress made in reducing cancer risks in known mutation carriers. Nonetheless, differential access to and utilization of genetic counseling and cancer predisposition testing among underserved racial and ethnic minorities compared with the white population has led to growing health care disparities in clinical cancer genetics that are only beginning to be addressed. Furthermore, deficiencies in the utility of genetic testing in underserved po
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Clifton, Katherine, Angelica Gutierrez Barrera, Junsheng Ma, Roland L. Bassett, Jennifer Keating Litton, and Banu Arun. "Adjuvant or neoadjuvant chemotherapy in early stage triple negative breast cancer (TNBC) comparison of outcomes in both BRCA positive and BRCA negative patients." Journal of Clinical Oncology 35, no. 15_suppl (2017): 576. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.576.

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576 Background: NSABP Protocol B-18 was a randomized trial which found no statistically significant difference in overall survival (OS) in patients (pts) receiving neoadjuvant (NAC) or adjuvant chemotherapy (AC), however outcome was not analyzed by breast cancer subtypes. Subsequent retrospective studies in TNBC reported conflicting results with an initial study showing a significant OS benefit with AC and later studies showing a trend toward improved survival with NAC. Furthermore, studies have not included a significant number of pts with BRCA mutations. This study aims to analyze outcomes o
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Michałowska, Sylwia. "Świadomość, możliwości i bariery w poradnictwie genetycznym w kierunku mutacji BRCA oferowanym Afroamerykankom i Latynoskom." Kultura-Społeczeństwo-Edukacja 21, no. 1 (2022): 175–200. http://dx.doi.org/10.14746/kse.2022.21.11.

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BRCA genetic mutation leads to an increased susceptibility to breast and / or ovarian cancer in the life cycle. Research suggests that African American women use genetic counseling for BRCA less often than White Women. The aim of the review of research work presented in the article is to describe opportunities and barriers present in genetic counseling offered to black women, African-Americans and Latinos. After verification, 16 studies conducted in the years 2012–2019 were subjected to analysis, in which African American, English and Non-English Latin American or mixed samples were tested wit
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Assad, Hadeel, Maliha Naseer, and Samira Ahsan. "Follow-up decisions and care after BRCA testing." Journal of Clinical Oncology 32, no. 26_suppl (2014): 52. http://dx.doi.org/10.1200/jco.2014.32.26_suppl.52.

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52 Background: Women with a deleterious mutation in BRCA 1/2 genes have an increased lifetime risk of developing breast and ovarian cancer. A spectrum of risk reducing and early detection strategies exist including clinical and radiographic surveillance, hormonal therapy, and prophylactic surgery. Methods: We studied the pattern of clinicopreventive inclination among patients undergoing BRCA testing in our genetics center via a telephone based questionnaire. Differences in sociodemographic and clinical characteristics were identified using independent sample t-test and Fisher exact test. Resul
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Afrough, Aimaz, Heather Lin, Angelica M. Gutierrez-Barrera, Jennifer Keating Litton, Vicente Valero, and Banu Arun. "Outcomes of HER2-positive nonmetastatic breast cancer patients with or without deleterious BRCA mutations after trastuzumab treatment." Journal of Clinical Oncology 31, no. 15_suppl (2013): e12550-e12550. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e12550.

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e12550 Background: Human epidermal growth factor receptor (HER2) overexpression or amplification occurs in 20–25% of all breast cancers and is associated with an aggressive form of the disease with reduced disease-free survival (DFS) and overall survival (OS). However, the outcome of patients with HER2+ tumor and BRCA mutation is poorly described. The purpose of this analysis was to analyze the clinical and pathological features and outcomes of patients with HER2+ breast cancer regards to their BRCA status. Methods: Patients who were referred for genetic counseling between 2004-2012 and who ha
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Ji, Jonathan Wenbin, Chuan Angel Lu, Baqir Jafry, et al. "Timely BRCA mutation testing in patients with metastatic prostate cancer: A comparative analysis between Medicare Advantage and traditional Medicare." Journal of Clinical Oncology 43, no. 5_suppl (2025): 319. https://doi.org/10.1200/jco.2025.43.5_suppl.319.

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319 Background: BRCA mutations have emerged as critical biomarkers for guiding the use of PARP inhibitors in metastatic prostate cancer. Timely access to BRCA testing remains a challenge, especially for those enrolled in Medicare Advantage (MA) plans, which cover more than half of Medicare beneficiaries but often impose greater restrictions than Traditional Medicare (TM). This study compares the timeliness of BRCA testing in patients with metastatic prostate cancer (mPCa) across these two insurance types. Methods: A retrospective cohort study was conducted using the Flatiron Health deidentifie
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Bilen, Mehmet Asim, Ibrahim Khilfeh, Kevin H. Li, et al. "Real-world treatment patterns in patients with BRCA 1/2-positive (BRCA+) metastatic castration-resistant prostate cancer (mCRPC) initiating first-line (1L) therapy." Journal of Clinical Oncology 42, no. 4_suppl (2024): 52. http://dx.doi.org/10.1200/jco.2024.42.4_suppl.52.

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52 Background: Patients with BRCA+ mCRPC have an aggressive disease course. Recently, they have been shown to be responsive to treatment with poly ADP-ribose polymerase inhibitors, such as niraparib, olaparib, and rucaparib, used in combination with abiraterone acetate and prednisone or prednisolone, or as monotherapy. This study aimed to describe real-world treatment patterns and outcomes among patients with BRCA+ mCRPC. Methods: De-identified electronic health records from the Flatiron Health – Foundation Medicine Inc. (FMI) Metastatic PC Clinico-Genomic Database (01/01/2011 – 06/30/2022) we
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Pal, Tuya, Deborah Cragun, Courtney Lewis, Devon Bonner, Lucia P. Camperlengo, and Susan Thomas Vadaparampil. "Disparities in cancer risk management among BRCA carriers across a diverse sample of young black, Hispanic, and non-Hispanic white breast cancer survivors." Journal of Clinical Oncology 34, no. 18_suppl (2016): LBA1504. http://dx.doi.org/10.1200/jco.2016.34.18_suppl.lba1504.

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LBA1504 Background: Rates of risk-reducing bilateral mastectomy (RRM) or risk-reducing prophylactic oophorectomy (RRSO) among BRCA carriers are based on studies of non-Hispanic whites (NHW), with little known among blacks or Hispanics. Methods: A population-based sample of NHW, black, and Hispanic women diagnosed with invasive BC &lt; age 50 in 2009-12 were recruited through the Florida State Cancer Registry and completed a baseline survey. Among the subset of BRCA carriers, we compared risk management for: 1) ovarian cancer (OC) through RRSO; and 2) BC through RRM or MRI screening, by calcula
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Qin, Bo, Madhir Vyas, Steven C. Moore, et al. "Abstract B072: Reproducibility of plasma metabolome over 1 year in a population-based study of Black breast cancer survivors." Cancer Epidemiology, Biomarkers & Prevention 32, no. 12_Supplement (2023): B072. http://dx.doi.org/10.1158/1538-7755.disp23-b072.

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Abstract Background: African American/Black women have higher rates of breast cancer (BrCa) mortality and morbidity than White women. The metabolomics approach using blood samples from epidemiological studies has the potential to elucidate pathways or uncover biomarkers for adverse BrCa outcomes. Therefore, understanding the within-person reproducibility of the blood metabolome of BrCa survivors and factors that influence metabolite levels over time is crucial. However, the stability of blood metabolome among Black BrCa survivors is unknown. Objective: This study aimed to estimate the within-p
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Fitzgerald, Britney, Justin Petucci, Vasant Honavar, and Monali Vasekar. "Abstract P2-10-15: Reproducibility of the interactions of race on outcomes and toxicities associated with treatment of HER2+ Breast Cancer across databases." Clinical Cancer Research 31, no. 12_Supplement (2025): P2–10–15—P2–10–15. https://doi.org/10.1158/1557-3265.sabcs24-p2-10-15.

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Abstract Objective: Investigate the reproducibility of the interaction of race on outcomes and toxicities associated with HER2+BrCa treatment across multiple data sources. Background: HER2+ breast cancer (BrCa) is an aggressive subtype, accounting for 20-30% of all BrCa cases. Trastuzumab, a monoclonal anti-HER2 antibody, remains the cornerstone of treatment. Previously, we identified race as a factor associated with increased toxicities and poorer outcomes in HER2+BrCa treatment using the TrinetX Database. Further investigation into the outcomes and toxicities in minority groups is necessary,
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Vasekar, Monali, Justin Petucci, Avnish Katoch, and Vasant Honavar. "Abstract PO2-09-06: Interaction of racial disparities on outcomes and toxicities associated with treatment of HER2+Breast Cancer- a TrinetX Database study." Cancer Research 84, no. 9_Supplement (2024): PO2–09–06—PO2–09–06. http://dx.doi.org/10.1158/1538-7445.sabcs23-po2-09-06.

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Abstract Objective: Investigate the interaction of racial disparities on outcomes and toxicities associated with treatment of HER2+BrCa (Breast Cancer)- a TrinetX Database study Background: HER2+BrCa is an aggressive subtype accounting for about 1/3rd of all BrCa, for which Trastuzumab based therapy remains the mainstay of treatment. While we are starting to understand the breadth of racial disparities in BrCa , the knowledge about outcomes and toxicities in relation to treatment of HER2+ BrCa is still limited. Design/Methods: In this propensity score-matched cohort study we used the TriNetX R
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Monberg, Matthew, Kathryn Mishkin, Lauren Stevens, et al. "Abstract P5-10-24: Real-world characteristics and BRCA testing among HER2- early breast cancer patients receiving olaparib or other adjuvant therapy in the US community oncology setting." Clinical Cancer Research 31, no. 12_Supplement (2025): P5–10–24—P5–10–24. https://doi.org/10.1158/1557-3265.sabcs24-p5-10-24.

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Abstract Background: One-third of breast cancer (BC) cases in BRCA1-mutated (BRCA1m) patients are classified as triple-negative breast cancer, an aggressive cancer prone to early onset and high risk of metastasis. 70% of BC cases in BRCA2-mutated (BRCA2m) patients are classified as hormone-receptor positive (HR+), human epidermal growth factor receptor 2 negative (HER2-). Differences in patients with BRCA1m and BRCA2m tumors suggest the need for targeted screening and treatment strategies based on genetic risk profiles. Olaparib, a poly ADP-ribose polymerase inhibitor, was approved in 2022 for
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Makhnoon, Sukh, Angelica M. Gutierrez Barrera, Roland Bassett, Aimaz Afrough, Isabelle Bedrosian, and Banu K. Arun. "Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences." Breast Journal 2022 (December 31, 2022): 1–9. http://dx.doi.org/10.1155/2022/1447545.

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Background. Patients with unilateral breast cancer carrying pathogenic variants in BRCA1/2 have the option to undergo contralateral prophylactic mastectomy (CPM). However, differences in CPM use and survival outcomes following CPM are poorly understood in this high-risk population, in part due to a lack of data from contemporary clinical cohorts. The objective of this study was to evaluate post-CPM overall survival (OS) and related racial/ethnic differences in a contemporary clinical cohort. Methods. We retrospectively reviewed the medical records of women with a personal history of unilateral
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Sorrell, McKenzie, Karen Wickersham, Swann Arp Adams, and Sue P. Heiney. "Racial disparities in setting of care in women with breast cancer in South Carolina." Journal of Clinical Oncology 37, no. 15_suppl (2019): e18146-e18146. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e18146.

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e18146 Background: African American (AA) women with breast cancer (BrCa) suffer a 40% higher mortality burden than White women despite having about equal incidence nationally and lower incidence in South Carolina. Our aim was to describe inpatient and emergency department visits by race and geographic location among BrCa survivors. Methods: We analyzed data from a study (1R15CA179355-01A1; Adams, PI) that combined administrative claims data from South Carolina’s Medicaid Program and a state-based, private-payor health plan to matching BrCA cases from the SC Central Cancer Registry. Race was de
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Gordan, Lucio N., Anupama Vasudevan, Sandy English, et al. "Effect of testing for BRCA1/2 on outcomes in patients with ovarian cancer treated with PARPi in 1st line maintenance (1LM)." Journal of Clinical Oncology 41, no. 16_suppl (2023): e17576-e17576. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e17576.

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e17576 Background: The treatment of ovarian cancer (OC) has expanded with the approval of PARPi in 1LM. Guidelines recommend that all women with OC get tested for BRCA1/2 and HRD status, given the therapeutic implication. Methods: This retrospective observational study used de-identified records from the Integra Connect PrecisionQ database enriched with information obtained by curation. Adult patients (&gt;18 yrs) with OC who had initiated treatment between 01/01/2019 and 12/31/2021 were included. Categorical variables were reported as proportions and continuous variables as median (interquart
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Gray, S. W., D. Smith, L. Karp, C. O'Grady, R. Hornik, and K. Armstrong. "Correlation of education, age, and health insurance status with attitudes about and preferences for direct-to-consumer BRCA testing." Journal of Clinical Oncology 27, no. 15_suppl (2009): e22116-e22116. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22116.

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e22116 Background: Direct-to-consumer (DTC) cancer genetic testing is increasingly common. However, little is know about peoples' attitudes about or preferences for DTC testing as compared to clinic-based genetic testing. Methods: We surveyed a convenience sample of 257 women without prior BRCA testing/counseling experience about their attitudes about and intentions to get online BRCA testing (90% participation rate). Subjects completed baseline interviews, viewed a modified commercial DTC website and completed an online survey. Results: Sample characteristics: mean age 37 (range 19–71), 80% w
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Kuang, Xiaying, Ying Lin, Nan Shao, et al. "Clinical significance of pathogenic variants in germline BRCA wild type patients at risk for hereditary breast cancer." Journal of Clinical Oncology 37, no. 15_suppl (2019): e13127-e13127. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13127.

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e13127 Background: Approximately, 10% of breast cancer (BC) are related to inherited germline mutations. BRCA1/2, the most recognized and tested genes, are responsible for 50% of hereditary BC. Genetic testing for hereditary BC has changed significantly. Increasing evidence suggests parallel multigene testing. Methods: NGS-based germline BRCA status assessment was performed on 209 high risk BC patients with at least one of the following risk factors: triple negative BC, early onset ( &lt; -45), with a family history of BC, bilateral BC and male BC. Multigene-panel testing was subsequently offe
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Mishkin, Kathryn, Kathleen Beusterien, Josh Lankin, et al. "Abstract P2-12-06: Key factors influencing patient preferences for BRCA testing and adjuvant therapy in HER2-negative early breast cancer." Clinical Cancer Research 31, no. 12_Supplement (2025): P2–12–06—P2–12–06. https://doi.org/10.1158/1557-3265.sabcs24-p2-12-06.

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Abstract Background: PARP inhibitors (PARPis) have survival benefits for women with high-risk HER2-negative early breast cancer (eBC) with germline BRCA mutations (BRCAm). Identifying patients eligible to receive PARPis can be challenging, as many individuals who are BRCAm carriers are unaware of their status, despite increasing availability of genetic testing. This study sought to identify factors that influence patient preferences for BRCA testing and adjuvant therapy. Methods: Women (≥18 years) in the United States with HER2-negative eBC were recruited between October 2023 - March 2024 via
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Mishkin, Kathryn, Yezhou Sun, Ke Meng, et al. "Abstract P5-12-04: BRCA genetic testing and treatment patterns for patients with early-stage HER2-negative breast cancer in the United States (U.S.) community setting, 2016–2022." Clinical Cancer Research 31, no. 12_Supplement (2025): P5–12–04—P5–12–04. https://doi.org/10.1158/1557-3265.sabcs24-p5-12-04.

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Abstract Background: The presence of a germline pathogenic variant in BRCA1/2 (gBRCAm) markedly increases the risk of breast cancer and its recurrence after standard therapy. Adjuvant olaparib received regulatory approval in the U.S. in March 2022 for treating adult patients with gBRCAm early-stage, high-risk HER2-negative breast cancer who had received neoadjuvant or adjuvant chemotherapy and who were selected for therapy based on an approved companion diagnostic test. This retrospective cohort study aimed to describe BRCA testing and subsequent treatment patterns with olaparib. Methods: We s
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Holman, Laura L., Molly S. Daniels, Amanda C. Brandt, et al. "Risk-reducing salpingo-oophorectomy and prophylactic mastectomy among BRCA mutation “previvors.”." Journal of Clinical Oncology 30, no. 15_suppl (2012): 1518. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.1518.

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1518 Background: We prospectively evaluated the timing and uptake of risk-reducing surgery in a cohort of female BRCA mutation carriers that have no personal cancer history (“previvors”). Methods: Patients at high risk of breast and ovarian cancer were enrolled between 2007 and 2011 and followed in a high-risk ovarian cancer screening clinic. Women were offered risk-reducing salpingo-oophorectomy (RRSO) and/or prophylactic mastectomy (PM) per guidelines. Their clinical data were recorded and analyzed using descriptive statistics. Results: Of 260 BRCA mutation carriers enrolled, 73 have no pers
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Padamsee, Tasleem J., Anna Muraveva, Lisa D. Yee, Celia E. Wills, and Electra D. Paskett. "Experiencing the cancer of a loved one influences decision-making for breast cancer prevention." Journal of Health Psychology 25, no. 8 (2017): 1064–75. http://dx.doi.org/10.1177/1359105317746480.

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Prior research demonstrates that family history influences breast cancer prevention decisions among healthy women at elevated risk of the disease. Drawing on in-depth interviews with 50 African American and White women, this study reveals an important psychological mechanism of this relationship: exposure to cancer among loved ones. Four distinct categories of cancer exposure (Abstract, Generalized, Practical, and Traumatic), distinguished by the characteristics of women’s experiences with cancer among family members and close friends, are associated with differences in knowledge and decisions
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Proussaloglou, Ellie M., Alex Rosenthal, Christina Raker, et al. "Abstract P5-14-07: Financial toxicity in BRCA1 and BRCA2 carriers: A pilot study." Cancer Research 82, no. 4_Supplement (2022): P5–14–07—P5–14–07. http://dx.doi.org/10.1158/1538-7445.sabcs21-p5-14-07.

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Abstract Objective: Financial toxicity (FT), the cumulative financial burden experienced by patients due to medical care, is a well-established phenomenon. BRCA mutation carriers have increased cancer risk, require frequent screening, and often undergo prophylactic surgery, all risk factors for FT. Our primary aim in this study was to describe rates of FT among BRCA carriers. Methods: We performed a novel, cross-sectional study of FT in patients with BRCA1/2 mutations. Patients were recruited via phone and/or email; patients who agreed to participate completed consents and surveys on RedCap. T
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Francois, Noelle B., Anuradha A. Shastri, Siani Harding, Tiziana DeAngelis, Adeseye Adekeye, and Nicole Simone. "Abstract 707: Calorie restriction to augment radiation response in models of Black women with breast cancer." Cancer Research 84, no. 6_Supplement (2024): 707. http://dx.doi.org/10.1158/1538-7445.am2024-707.

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Abstract Introduction: Black women have higher mortality from breast cancer (BrCa) than other populations. While several factors contribute to this disparity, insulin-like growth factor 1 receptor (IGF-1R), is notably overexpressed in tumors originating in Black women compared to White women, which is associated with tumor progression and resistance to radiation therapy (RT). Caloric restriction (CR) is noted to reduce the expression of members of the IGF-1R pathway. We hypothesize that CR increases the efficacy of RT, in Black women, by downregulating the IGF-1R pathway to decrease tumor grow
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Myers, Samantha, Nathalie LeVasseur, Kelly Mackenzie, et al. "The effect of exercise on physical function and medication adherence in women receiving endocrine therapy for breast cancer: The breast cancer endocrine therapy fitness (BE-FIT) randomized controlled trial." Journal of Clinical Oncology 41, no. 16_suppl (2023): 12069. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.12069.

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12069 Background: Approximately 20% of women receiving endocrine therapy (ET) for early-stage breast cancer (BrCa) discontinue their regimen due to side effects, including vasomotor symptoms and arthralgias, subjecting them to higher rates of disease recurrence. Exercise is one approach to mitigate ET-related toxicity and potentially improve medication adherence by mitigating ET-related symptoms. However, only 11% of women with BrCa adhere to recommended exercise guidelines. Purpose: To examine the effect of a virtual supervised exercise program for women receiving ET for early-stage BrCa on p
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Hesse-Biber, Sharlene, Memnun Seven, Hannah Shea, Madeline Heaney, and Andrew A. Dwyer. "Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for BRCA Variants: A Mixed Methods Study." Genes 14, no. 7 (2023): 1450. http://dx.doi.org/10.3390/genes14071450.

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This study aimed to gain a deeper understanding of genomic healthcare utilization, patient activation, and intrafamilial risk communication among racially and ethnically diverse individuals tested for BRCA variants. We employed an explanatory, sequential, mixed-methods study guided by the Theory of Planned Behavior. Participants completed an online survey, including sociodemographic, medical history, and several validated instruments. A subset of participants participated in in-depth, semi-structured interviews. A total of 242 women were included in the quantitative analyses. The majority of s
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Cano, Kimberlee, Haocen Wang, Abigail Hafner, and Judy Huei-yu Wang. "Knowledge and use of BRCA genetic testing among Chinese and Non-Hispanic white breast cancer survivors." Molecular Genetics and Metabolism 132 (April 2021): S56. http://dx.doi.org/10.1016/s1096-7192(21)00167-0.

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Hesse-Biber, Sharlene, Memnun Seven, Hannah Shea, and Andrew A. Dwyer. "Intersectionality, BRCA Genetic Testing, and Intrafamilial Communication of Risk: A Qualitative Study." Cancers 16, no. 9 (2024): 1766. http://dx.doi.org/10.3390/cancers16091766.

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Significant health disparities exist in relation to pathogenic variants in BRCA1/2. This study aimed to better understand the barriers and facilitators to BRCA1/2 genetic testing and intrafamilial communication of risk in racially and ethnically diverse individuals. We conducted qualitative interviews with non-Hispanic White (n = 11) and Black, Indigenous, People of Color (BIPOC) individuals (n = 14) who underwent testing for pathogenic BRCA1/2 variants. We employed template analysis, case study analysis, and comparative case study analysis to examine healthcare experiences related to genetic
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Wei, Christina H., Susan Shehayeb, Nicole Lugo Santiago, et al. "BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute." PLOS ONE 18, no. 6 (2023): e0286998. http://dx.doi.org/10.1371/journal.pone.0286998.

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Histologic and genetic mutation information from racially and ethnically diverse populations is warranted to better inform future cancer predisposition and promote health equity. A single institutional, retrospective capture of patients with gynecologic conditions and genetic susceptibilities to malignant neoplasms of the breast or ovaries was performed. This was achieved with manual curation of the electronic medical record (EMR) from 2010–2020 with the use of ICD-10 code searches. Among 8983 consecutive women identified with gynecologic conditions, 184 were diagnosed with pathogenic/likely p
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Joseph, Kathie-Ann P., Shubhada Dhage, and Kenneth Rifkind. "Genetic counseling and testing of an underserved population at a large city hospital." Journal of Clinical Oncology 32, no. 26_suppl (2014): 38. http://dx.doi.org/10.1200/jco.2014.32.26_suppl.38.

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38 Background: Genetic counseling and testing for hereditary breast and ovarian cancer is underutilized in low-income and racial/ethnic women. We examine the number of patients referred for genetic counseling over from 2011-2012, clinic referral pattern, and number of patients tested in a population of largely underserved, immigrant patient population. Methods: The study was conducted in Bellevue Hospital. A retrospective review of patients referred to this institution’s high-risk clinic was analyzed. Demographics, insurance status, BRCA status, if tested, and source of referral were collected
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Kurata, Morito, Emiily Pope, Jingmin Shu, et al. "Abstract P3-08-04: Discovery of cancer genes and pathways operative in PI3K-activated mammary cancer reveals clinically relevant genotype-phenotype correlations." Cancer Research 83, no. 5_Supplement (2023): P3–08–04—P3–08–04. http://dx.doi.org/10.1158/1538-7445.sabcs22-p3-08-04.

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Abstract Human breast cancer (BRCA) shows tremendous genomic, gene expression, clinical, and phenotypic heterogeneity. Known driver gene alterations can only explain a portion of this heterogeneity, some of which likely arise from variation in the target cell for transformation, in addition to incompletely understood gene copy number and epigenetic alterations. These factors are difficult to identify with certainty using human patient samples due to widely varying germline genetic backgrounds, thousands of gene copy and epigenetic changes per sample, and, unknown target cell transformation. Ac
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Whitaker, Kristen, Rohan Parikh, Elizabeth Esterberg, et al. "Abstract P2-09-08: Impact of race on clinical outcomes among patients with advanced triple negative breast cancer (TNBC) and Germline BRCA1/2 mutation(s) (gBRCA1/2mut): Results from a US real-world study." Cancer Research 82, no. 4_Supplement (2022): P2–09–08—P2–09–08. http://dx.doi.org/10.1158/1538-7445.sabcs21-p2-09-08.

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Abstract Background: Racial disparities among patients with breast cancer in the United States are well documented, with Black patients having a 40% higher mortality than White patients. Socioeconomic status, tumor biology differences, and treatment access are known contributing factors. Additionally, despite having a higher incidence of TNBC, Black patients are substantially less likely to receive gBRCA1/2mut testing than White patients. TNBC is an aggressive subtype, accounting for 15% of all breast cancers diagnosed in the United States. TNBC disproportionately affects BRCA mutation carrier
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Aryasomayajula, Chinmayi, Caitlin Ruth Johnson, Alex Andrea Francoeur, Chelsea Stewart, Daniel Stuart Kapp, and John K. Chan. "Germline genetic profiles of women with ovarian malignancies: A Myriad Collaborative Research Registry study." Journal of Clinical Oncology 42, no. 16_suppl (2024): 5585. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.5585.

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5585 Background: To compare the characteristics and genetic mutational profiles of patients with ovarian, fallopian tube and primary peritoneal cancers by age and self-identified ancestry. Methods: Data on patients with epithelial ovarian, fallopian, and peritoneal cancers who had germline, MyChoice, and/or Precise testing were obtained from the Myriad Collaborative Research Registry. Gene mutations of interest were obtained from TAPUR studies currently under enrollment. Graph Pad Prism v10.1.1 was utilized for statistical calculations. Results: Of 96,149 patients with ovarian, fallopian tube,
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Higashiyama, Nicole, Shaun Bulsara, Susan G. Hilsenbeck, et al. "Genetic assessment of hereditary breast and ovarian cancer in the Harris Health System: A five-year, single-center experience." Journal of Clinical Oncology 39, no. 15_suppl (2021): 10587. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10587.

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10587 Background: Identifying patients with hereditary breast cancer is critical since lifetime breast cancer risk is as high as 85% for those with germline BRCA1/2 mutations and preventive interventions can reduce that risk. However, genetic assessments and counseling are often underutilized among racial/ethnic minority populations. Reducing this genetic testing gap is important since hereditary breast/ovarian cancer syndromes occur among racial/ethnic minorities at least as frequently as non-Ashkenazi Jewish, non-Hispanic White populations. More information on variants in these populations i
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Wu, Yanning, Cheryl Thompson, and Fredrick Schumacher. "Abstract 847: Association of methylation-based stem cell divisions with lifetime cancer risk and cancer progression." Cancer Research 84, no. 6_Supplement (2024): 847. http://dx.doi.org/10.1158/1538-7445.am2024-847.

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Abstract Cancer initiation arises from the accumulation of somatic mutations acquired during stem cell mitotic events mediated by carcinogenic risk factors. On an ecological level, Tomasetti and Vogelstein (2015) demonstrated that lifetime risk of solid tumor cancer types were strongly correlated with total number of stem cell divisions estimated from tissue-specific cell lines. Recently, several mitotic clocks (MC) have been developed to estimate stem cell division rates (SCDR) based on whole-genome methylation arrays. Here, we compare estimated SCDR for several tissue types with tissue-speci
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Naghi, Leah A., Julie O. Culver, Charité Ricker, et al. "Breast Cancer MRI Screening of Patients After Multiplex Gene Panel Testing." JAMA Network Open 8, no. 1 (2025): e2454447. https://doi.org/10.1001/jamanetworkopen.2024.54447.

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ImportanceEnhanced breast cancer screening with magnetic resonance imaging (MRI) is recommended to women with elevated risk of breast cancer, yet uptake of screening remains unclear after genetic testing.ObjectiveTo evaluate uptake of MRI after genetic results disclosure and counseling.Design, Setting, and ParticipantsThis multicenter cohort study was conducted at the University of Southern California Norris Cancer Hospital, the Los Angeles General Medical Center, and the Stanford University Cancer Institute. Patients were recruited from July 1, 2014, through November 30, 2016. Following multi
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Mortimer, Joanne, Sidney S. Lindsey, Ilana Solomon, et al. "Abstract P1-05-03: Prevalence of BRCA1/2 mutations in an underrepresented population of women with breast cancer: Observations from the City of Hope INSPIRE study." Cancer Research 83, no. 5_Supplement (2023): P1–05–03—P1–05–03. http://dx.doi.org/10.1158/1538-7445.sabcs22-p1-05-03.

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Abstract Table 1. Incidence of BRCA 1 and 2 mutations by Race and Ethnicity BRCA1 BRCA2 BRCA1 or 2 VUS/Negative Native American 0 1 1 6 Asian 2 3 5 150 Black/African American 3 2 5 48 Native Hawaiian or Pacific Islander 0 0 0 5 Other 1 1 1* 26 White 25 17 42 688 Unknown 0 0 0 20 Declined 1 0 1 24 TOTAL 32 24 55 967 * Patient had both BRCA1 and BRCA2 mutations Citation Format: Joanne Mortimer, Sidney S. Lindsey, Ilana Solomon, Wai Park, Duveen Sturgeon, Kathleen Blazer, Stacy Gray, Joseph Bonner, Xiaoyu Xia, Stephen Gruber. Prevalence of BRCA1/2 mutations in an underrepresented population of wo
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Mahtani, Reshma L., Alexander Niyazov, Katie Lewis, et al. "Impact of race on biomarker testing among HER2- advanced breast cancer (ABC) patients (pts) in the United States: Results from a real-world study." Journal of Clinical Oncology 39, no. 15_suppl (2021): 10598. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10598.

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10598 Background: African Americans (AA) have the highest breast cancer (BC) mortality rate. Access to treatment is a known contributing factor. In the past 4 years, several targeted therapies for HER2- BC have become available which require testing for specific biomarkers. This study assessed the impact of race on biomarker testing rates in HER2- ABC pts receiving treatment in the US. Methods: Oncologists were recruited to abstract data from medical charts for the next 8-10 pts receiving treatment with HER2- ABC during Sept 2019-Apr 2020. Pts records were stratified by race and categorized in
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Pacheco-Spann, Laura, Mark Sherman, Susan Friedman, et al. "Abstract PO5-08-03: Breastfeeding and Breast Cancer Screening Among Carriers of Pathogenic Variants in BRCA 1 and BRCA 2 and Other High Penetrance Genes: Knowledge and Perspectives." Cancer Research 84, no. 9_Supplement (2024): PO5–08–03—PO5–08–03. http://dx.doi.org/10.1158/1538-7445.sabcs23-po5-08-03.

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Abstract Objectives: Carriers of pathogenic variants in high penetrance mutations, including BRCA 1 or BRCA 2 face higher lifetime risks of developing breast and tubo-ovarian cancers, and possibly endometrial cancers, than non-carriers. In particular, relative risks are higher among carriers than non-carriers at younger ages, suggesting the value of early initiation of breast cancer screening and the use of sensitive imaging methods, such as magnetic resonance imaging (MRI). Further, breastfeeding appears protective for these three cancers in the general population, and potentially among mutat
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Bitar, Jin Sun, Monica Mita, Philomena McAndrew, et al. "Abstract P3-10-19: Phase II Trial of Pembrolizumab in Combination with Olaparib in Advanced Breast Cancer with BRCA-mutation or Homologous Recombination Defect (HRD)." Clinical Cancer Research 31, no. 12_Supplement (2025): P3–10–19—P3–10–19. https://doi.org/10.1158/1557-3265.sabcs24-p3-10-19.

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Abstract Background: Tumors with HRD showed similar propensity to be sensitive to poly ADP-ribose polymerase inhibitors (PARPi) inhibitors as BRCA-mutated tumors. The rationale for combining PARP inhibitors with immune checkpoint inhibitors (ICIs) comes from the observation that PARPi induces PD-L1 and triggers robust local and systemic antitumor immunity via STING-dependent pathways, which in turn synergizes with ICIs. This study was designed to test the effectiveness of this combination in breast cancer patients with HRD defects or BRCA mutations. Methods: This is an open-label, single-cente
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Gerber, N. L., G. Diao, N. Stout, et al. "Correlates of clinically significant fatigue in women with newly diagnosed breast cancer." Journal of Clinical Oncology 27, no. 15_suppl (2009): e20517-e20517. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e20517.

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e20517 Background: Cancer related fatigue (CRF) is common in cancer survivors. CRF has been reported to be one of the most distressing symptoms associated with cancer and its treatment. Activity and biological profiles of those who suffer from CRF, have been poorly characterized. This IRB approved prospective, natural history study reports fatigue and associated findings in women newly diagnosed with breast cancer (BrCa), receiving standard treatment. Methods: All women were evaluated pre-operatively and at &gt;9 months after diagnosis. Variables measured: Age, height, marital status, presence
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Yang, Felice, Yue Huang, Catherine Lerro, et al. "Enrollment representation of age, race, and ethnicity in ovarian cancer registrational clinical trials (2010-2020): An evaluation by the U.S. Food and Drug Administration." Journal of Clinical Oncology 41, no. 16_suppl (2023): e18527-e18527. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e18527.

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e18527 Background: Ovarian cancer is the fifth leading cause of cancer mortality among U.S. women. Because clinical trials have historically not been demographically representative of real-world patients, an understanding of the extent of disparities is an important step in addressing them. We aimed to evaluate the representation of older adults and racial and ethnic minorities in trials for ovarian cancer drugs. Methods: We conducted a pooled analysis of all trials that were submitted to the U.S. Food and Drug Administration (FDA) from January 1, 2010 to December 31, 2020 in support of market
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