bluuebunny/crossref_metadata_2025_split huggingface dataset:
Barriers to cervical cancer screening in a developing Middle Eastern country: A nationwide survey.
Authors: Abdulelah Ahmed A , Abdulelah Zaid A , AlSamhori Jehad , AlQirem Lina , Al-Qirem Ahmad , AlSamhori Abdel Rahman 
Published: June 2023

10545 Background: In addition to being ranked as the 4th leading malignancy worldwide, cervical cancer is associated with considerable morbidity and mortality resulting in significant burden. However, cervical cancer screening is available and has been proven to significantly minimize the associated morbidity and mortality through early detection. The identification of the barriers towards cervical cancer screening in Jordan, a developing middle eastern country, is of outstanding significance towards effective intervention and minimizing the collective health and socioeconomic burden imposed. Methods: The first consecutive 695 females aged 25 years and above with no prior history of cervical cancer and residing in Jordan across the different regions were enrolled via random probability sampling through a self-reporting survey that comprises of extensive questions regarding the participant’s demographics, medical history, awareness about cervical cancer and its screening methods. Single females were not included in the study due to culture unacceptability of performing pap smears on unmarried females. Statistical analysis was performed to identify the key barriers towards cervical cancer screening in Jordan. Results: The mean age of the enrolled participants was 42 ± 9 years with the majority of the participants having a higher level of education (84.5%), are medically insured (72.4%), and are non-smokers (74.7%). The majority of the participants, 77.7%, did not report a family history of cervical cancer. 472 participants (67.9%) were aware of the availability of a screening modality for cervical cancer, with the majority being informed through awareness campaigns (64.7%). Nonetheless, only 30.1% of the participants previously underwent pap smear for screening purposes. When the participants who did not undergo previous cervical cancer screening were compared with those who did, the participants who did not undergo any prior screening were more likely to identify the lack of information and knowledge towards screening (49.0% vs 9.6%) (p-value < 0.001), fear of the results (81.5% vs 7.2%) (p-value = 0.016), lack of belief in screening and its efficacy (2.1% vs 0.0%) (p-value = 0.037) as crucial and leading barriers. Additionally, the presence of a positive family history for cervical cancer was identified as a statistically significant promoter for screening uptake (p-value = 0.004). Nonetheless, there was no statistically significant difference between the two groups when evaluating the financial aspects of screening or embarrassment from the test as potential barriers, p-value = 0.159 and 0.738, respectively. Conclusions: Lack of knowledge towards screening and belief in its efficacy, and fear of the results were identified as driving barriers towards screening. Effective formulation of comprehensive awareness campaigns is pivotal towards successful intervention to the reported barriers.
Characterizing medical mistrust (MM) in a socio-demographically diverse sample of patients with cancer.
Authors: Park Cindy , Bass Sarah B , Ruth Karen J , Chertock Yana , Singley Katie J , Luck Caseem C , Abuhillo Malak , Khan Aleeha , Gowda Shreya , Holland Erin M , Knight Elizabeth , Verma Shreya , Rotaru Alexandru-Mircea , Hussain-Kasim Abeeda , Waisfeld Agostina , Hall Michael J. 
Published: June 2023

10551 Background: Genetic and genomic testing are increasingly recognized as essential to high quality cancer care. Despite expanded eligibility for testing in recent years, barriers to genomic medicine persist. Notably, growing political and social mistrust risks negatively impacting views of medical institutions, medical professionals and complex technologies, and could undermine acceptance of genetic/genomic testing to guide treatment and identify risk in families. Prior studies have documented disparities and increased MM of genetic counseling and testing among underserved minorities which have been associated with delays or avoidance to care. We sought to identify individual characteristics associated with MM among cancer patients. Methods: A cross-sectional survey of cancer pts from the Fox Chase Cancer Center (FCCC) Burholme Campus (n=105, mixed urban/suburban, primarily insured) and Broad street campus (n=95, primarily urban underserved population) was conducted from 6/22-12/22, using a maximum variation (purposeful) sampling approach. Surveys queried MM using the LaVeist MM Index (MMI, range 0-10, measures healthcare/institution MM) and the Thompson Group Based MM Scale (GBMMS, range 1-5, measures race/ethnic specific MM; suspicion, discrimination, and lack of support subscales). Demographic and disease factors, as well as psychosocial measures (general/genetic health literacy, social support, self-advocacy, conspiratorial thinking, relationship with doctor, and trust in information sources) were also assessed. Medical decision making preference and health literacy were assessed with single validated items. The study was approved by the FCCC IRB #22-8003. Results: Participants had a median age of 62 yrs (range 25-91); 62% were female, 47% African American (AA), 15% Hispanic, 42% married, 47% high school graduate or less, 52% had household income <$50K/yr. Breast (28%), colorectal (16%), and GYN/GU (12%) cancers were the most commonly reported, and 23% reported >1 previous cancer diagnosis. Mean GBMMS was 2.11 (SD 0.80) and mean MMI was 4.63 (SD 1.54). See the table for significant associations. Conclusions: High levels of healthcare institution and race-based MM are associated with socio-demographic vulnerabilities, putting the most vulnerable cancer patients at high risk of making poor health decisions. [Table: see text]
Melanoma literacy and predictors for skin self-examination in three western U.S. states: A population-based survey.
Authors: Nelson Jacob , Latour Emile , Detweiler-Bedell Brian , Detweiler-Bedell Jerusha B. , Zell Adrienne , Wenzel Elizabeth , Stoos Elizabeth , Wiedrick Jack , Berry Elizabeth G. , Lange Jane , Etzioni Ruth , Lapidus Jodi A , Leachman Sancy Ann 
Published: June 2023

10558 Background: Melanoma is a leading cause of skin cancer deaths, despite being easily treated when detected early. The objective of this study is to investigate the relationship between melanoma knowledge and beliefs, and the performance of skin self-examination (SSE) in three US states with high incidence rates of melanoma. Understanding the barriers to behaviors such as SSE can aid in the development of interventions aimed at increasing the frequency of early detection and reducing melanoma-related deaths. Methods: A total of 15,000 surveys were distributed to households in the states of Oregon, Washington, and Utah using a stratified two-stage sampling design. The survey responses were weighted to resemble the gender and age distributions of the US census. Rural areas were oversampled to ensure sufficient representation. The first objective of this study was to assess melanoma literacy, including knowledge about melanoma risks, attitudes, and preventive behaviors. Our second objective was to investigate the relationship between self-reported SSE and melanoma literacy, self-efficacy, and belief in the benefits of performing SSE. Results: Among 2,326 respondents, characteristics were similar across states (weighted by census-based population percentages), including demographics, baseline knowledge, performance of SSE, and self-efficacy in performing SSE. Rural respondents had a higher frequency of personal history of melanoma (16.2%) compared to urban respondents (9.9%). Only 21.2% of the respondents demonstrated high knowledge of melanoma. 62.8% of respondents reported having performed a SSE at some point in their lives, with only 24.6% of respondents having done so in the past 2 months. Most respondents (84.8%) believed in the effectiveness of SSE in detecting skin cancer, but only 38.3% and 7.3% reported being "fairly" or "very" confident in performing SSE, respectively. The performance of SSE was most strongly correlated with higher melanoma knowledge, higher self-efficacy, and a personal history of melanoma. Conclusions: The results of the survey indicate that melanoma literacy among respondents in 3 high-risk Western states is limited. A higher level of literacy was associated with a higher likelihood of reported early detection behaviors. This study provides a baseline assessment and serves as a foundation for the development of public health campaigns aimed at promoting prevention and early detection of this deadly cancer.
Patient navigation for lung cancer screening in an urban safety-net system: A pragmatic randomized clinical trial.
Authors: Bhalla Sheena , Natchimuthu Vijaya Subbu , Lee Jessica L. , Wahid Urooj , Zhu Hong , Santini Noel O. , Browning Travis , Hamann Heidi A , Johnson David H. , Chiu Hsienchang , Lee Simon Craddock , Gerber David E 
Published: June 2023

10577 Background: Although low-dose computed tomography (LDCT)-based lung cancer screening (LCS) can decrease lung cancer mortality in high-risk individuals, it may be a complex and time-intensive process that poses challenges to patients, particularly those from minority, under- and uninsured populations. We conducted a pragmatic randomized controlled trial of telephone-based navigation for LCS within an integrated, urban safety-net healthcare system (Parkland Health, Dallas, Texas). Methods: Patients eligible for LCS based on United States Preventive Services Task Force 2013 Guidelines were randomized (1:1) to usual care with or without phone-based navigation. Following a structured protocol, navigators made systemic contact with patients to provide appointment reminders, share information and resources, assess barriers to LCS, and address smoking cessation. The primary endpoint was completion of the first three consecutive steps (eg, 3 annual LDCTs or LDCT, other imaging, biopsy) in a patient’s LCS process. We also explored differences in completion of LCS steps in navigation and usual care groups according to patient characteristics using chi-square test. Results: Patients (n=447) were randomized to phone-based navigation (n=225) or usual care (n=222) between February 2017 and February 2019. Mean patient age was 62 years, 46% were female, and 69% were racial-ethnic minorities. There was no significant difference in completion of the first three steps of the LCS algorithm (12 vs. 9%; P=0.3) between arms. Completion of LCS steps was not impacted by navigation among different subgroups, including age (<65 vs. ≥65 years), gender (male vs. female), race/ethnicity (non-hispanic white vs. racial minorities), and comorbidity status (Charlson Comorbidity Index <5 vs. ≥5). A key reason for step non-completion was lack of order placement. In the navigation arm, 368 of expected 675 steps (55%) were ordered, and in the usual care arm, 344 of expected 666 steps (52%) were ordered. Despite low three-step completion rates overall, the majority (>75%) of LCS algorithm steps were completed when ordered by their clinical team(Table). In exploratory univariable analysis, completion rates for ordered steps were 86% for navigation and 79% for usual care ( P=0.03). Conclusions: In this study, lack of order placement was a key reason for incomplete LCS steps. When orders were placed, navigated patients had higher rates of completion. Clinical team education and enhanced EHR processes to simplify order placement, coupled with patient navigation, may increase LCS uptake and completion in safety-net healthcare systems. Clinical trial information: NCT02758054 . [Table: see text]
Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria?
Authors: Casasanta Nicole , Soper Emily R. , Abul-Husn Noura S. 
Published: June 2023

10584 Background: 5-10% of breast cancers are associated with germline pathogenic variants in breast cancer predisposition genes. 2-5% of these variants are in moderate penetrance (MP) genes, conferring a relative risk to develop breast cancer of 2-5. Various personal history (PH) and family history (FH)-based criteria for testing high penetrance genes, such as BRCA1 and BRCA2, have been proposed, but it is unknown to what extent women with pathogenic variants in MP genes may meet such criteria. We evaluated PH and FH of cancer among women with pathogenic variants in MP genes in a diverse and unselected patient cohort in New York City to determine how often they met well-established genetic testing criteria from the National Comprehensive Cancer Network (NCCN). Methods: Exome sequence data from ~16,000 female Bio Me Biobank participants were evaluated for expected pathogenic (per ClinVar, or predicted loss-of-function) variants in ATM, BARD1, BRIP1, CHEK2, NF1, PALB2, RAD51C, and RAD51D. We extracted demographic information, PH and FH of breast, ovarian, and/or pancreatic cancer, and PH and FH of genetic testing from participant questionnaires and electronic medical record review. We then determined which participants met current NCCN criteria (version 1.2023) for high penetrance breast, ovarian, and pancreatic cancer genetic testing. Results: We identified 252 women with expected pathogenic variants in MP genes: 105 CHEK2, 58 ATM, 35 BRIP1, 24 PALB2, 9 BARD1, 8 NF1, 8 RAD51D, and 5 RAD51C. 30% met NCCN criteria, including 30% of those with CHEK2 variants, 36% ATM, 14% BRIP1, 33% PALB2, and 30% with variants in BARD1, NF1, RAD51D, or RAD51C. 36% of those who met NCCN criteria had previously undergone clinical genetic testing. 29 of 33 (88%) women with a PH of breast cancer and 52 of 81 (64%) women with a FH of breast cancer met criteria. Conclusions: Current genetic testing criteria focus on identifying individuals harboring pathogenic variants in high penetrance cancer genes. However, in our study, a substantial portion of women with a pathogenic variant in a MP breast cancer gene also met such criteria, particularly when PH or FH of breast cancer were present. Only a third of those who met NCCN criteria had undergone clinical genetic testing. These findings suggest that the majority of women with genetic risk for breast cancer may be missed in clinical practice. Studies have shown that most physicians would change management strategies for patients with pathogenic variants, including variants in MP genes. As our understanding of genetic risk for breast cancer continues to evolve, we must explore strategies to improve identification and management of individuals with variants in MP breast cancer genes.
Twenty-one gene recurrence scores in individuals with breast cancer associated with CHEK2 and ATM germline pathogenic variants.
Authors: Shah Payal Deepak , Brower Jamie , Cuff Lauren , Richardville Robert , Hamilton Jada G. , Garber Judy Ellen , Yadav Siddhartha , Couch Fergus , Offit Kenneth , Domchek Susan M. , Robson Mark E. 
Published: June 2023

10585 Background: The 21-gene recurrence score assay (Oncotype DX, Genomic Health Inc., CA) is prognostic, quantifies predicted benefit of adjuvant chemotherapy, and informs clinical decisions for patients with early-stage, hormone receptor-positive (HR+) breast cancer (BC). Differences in Oncotype recurrence scores (RS) in individuals with and without BRCA1 and BRCA2 pathogenic variants (PV) have been demonstrated, but the results of this assay in patients with BC and germline CHEK2 or ATM PV have not previously been described. This is of particular relevance as CHEK2 BC have been associated with a worse prognosis. Methods: Prospective Registry of MultiPlex Testing (PROMPT) is an online research registry for individuals who have had multigene panel testing for inherited cancer susceptibility. We retrospectively evaluated Oncotype DX recurrence scores from PROMPT participants (pts) with PV or likely PV in CHEK2 or ATM. Mood’s median tests were used to compare median RS, and Yates corrected Chi-square tests were used to compare RS distributions between carriers and a genetically unselected reference population. Results: Oncotype DX reports were reviewed for 75 pts with 77 BC (n = 50 pts with CHEK2 PV with 51 BC; n = 24 with ATM PV; n = 1 with CHEK2 and ATM PV with 2 BC). Among CHEK2 carriers, median RS was 17 (range 2-43) overall, 17 (2-36) for pts < age 50, and 18.5 (8-43) for pts ≥age 50 (p-value 0.47), with distributions not significantly different than reference ( < 50, p = 0.70; ≥50, p = 0.93). Ten pts had low penetrance CHEK2 alleles (p.S428F or p.I157T) with median RS 16 (9-28) compared to 18 (2-43) in those with other CHEK2 alleles (p = 0.35). Among ATM carriers, median RS was 17 (1-35) overall, 17 (1-35) for pts < age 50, and 16 (11-32) for pts ≥age 50 (p = 0.51), with distributions also not significantly different ( < 50, p = 0.78; ≥50, p = 0.79). Conclusions: Unlike data seen in BC associated with BRCA1 and BRCA2, Oncotype DX RS in individuals with CHEK2 and ATM-associated BC are similar to the published genetically unselected commercial database median RS of 16, with no clear difference based on penetrance of CHEK2 allele. Proportions of patients < 50 and ≥50 with CHEK2 and ATM PV with RS within the range for chemoendocrine therapy consideration are also similar to the historical reference. The inferior prognosis that has been suggested in CHEK2 BC is not reflected in Oncotype DX RS. [Table: see text]
Evaluating interventions to increase the uptake of NCCN genetic counseling recommendations.
Authors: Stempel Sophie , Paul Shirlene , McPeek Chelsea , Levy Mia Alyce , Alvarado Rosalinda 
Published: June 2023

10599 Background: Genetic counseling for hereditary breast cancer remains underutilized despite increased access. The lack of identification and/or referral of high-risk women for genetic counseling is the major contributor to the poor uptake. A cancer risk assessment program (CRA) utilizing NCCN guidelines was implemented in our breast imaging department to identify women at increased risk for breast cancer. We analyzed the impact of informing all women who get a screening mammogram of their genetic mutation risk and the effect of nurse navigation on increasing the subsequent uptake of genetic counseling. Methods: To assess the effectiveness of these interventions, data from July 2021 to January 2022 was extracted from the EMR and grouped into cohorts based on nurse navigation contact and the completion of genetic counseling. A chi-squared analysis was performed to determine the significance of the results. Results: A total of 22,915 patients participated in the CRA program during the study period. 2,671 (11.7%) patients qualified for genetic counseling based on NCCN guidelines. 414 (15.5%) of these patients completed a genetic counseling appointment. 298 of these patients received genetic testing (72%) and 18 (4.3%) had a pathogenic mutation found. The nurse navigator was able to reach 1,288 (48%) of the 2,671 patients (Cohort A). Of these patients, 324 (25.2%) completed genetic counseling appointments compared to 90 of the 1,383 (6.5%) patients who were not contacted by the nurse navigator (Cohort B). Statistical analysis determined there was a significant difference in uptake of genetic counseling between Cohort A and Cohort B (p<.0001). Conclusions: The implementation of the CRA program at the breast imaging center uncovered many patients who qualified for genetic counseling and testing based on NCCN guidelines. Genetic counseling uptake is significantly increased in patients who are reached by a Nurse Navigator. These interventions allowed for the discovery of unsuspected deleterious genetic mutations which require more aggressive screening to allow for the early detection of breast cancer and better overall prognosis. [Table: see text]
Genetic testing outcomes and pathogenic germline mutation prevalence in renal cell carcinoma.
Authors: Nguyen Charles B , Knaus Claire , Accardo Marie-Louise , Koeppe Erika , Alva Ajjai Shivaram , Else Tobias 
Published: June 2023

10601 Background: Germline mutations have been observed in renal cell carcinoma (RCC) with varying frequencies reported from 5% to 18% of patients. Due to the prevalence of germline mutations, current guidelines by the National Comprehensive Cancer Network (NCCN) recommend genetic testing for patients with RCC and high-risk factors such as young age, bilateral or multifocal tumors, family history of RCC, as well as certain RCC histologies. However, the germline mutational landscape in RCC has not been fully characterized. Here, we report the genetic testing results and clinicopathologic factors of patients with RCC who were referred for germline testing. Methods: All patients with a diagnosis code of kidney cancer and referred to the Cancer Genetics clinic at the University of Michigan between 2004 and 2022 were identified. Patients were excluded if they had erroneous RCC diagnosis codes, no history of RCC diagnosis, known familial/hereditary mutation or syndrome, or did not undergo germline testing. Genetic testing outcomes, germline mutation frequency, and clinical factors were obtained through chart review and analyzed using descriptive statistics. Results: A total of 322 patients with a history of RCC and referred for genetic testing were identified. The median age at diagnosis in all patients was 47 (interquartile range: 38-58). Males accounted for 56.8% of the cohort. Most patients (62.4%) had clear cell histology at initial diagnosis, whereas 30.7% had non-clear cell histology. The majority of patients (61.5%) were diagnosed at stage 1. Bilateral and multifocal tumors at diagnosis accounted for 18.9% and 12.7%, respectively. Pathogenic or likely pathogenic variants (P/LP) were identified in 43 patients (13.4%); 225 patients had negative germline testing (69.9%); 54 patients (16.8%) had a variant of unknown significance (VUS). The most frequently mutated RCC-associated genes were FLCN (n=10, 3.1%), SDHA/B/D (n=7, 2.2%), VHL (n=4, 1.2%), MLH1 (n=3, 0.9%), and FH (n=2, 0.6%). Common mutations in other cancer-related genes were CHEK2 (n=4, 1.2%), ATM (n=2, 0.6%), and RAD50 (n=2, 0.6%). Most patients (81.4%) with a P/LP test result had at least 1 of the following: diagnosis age ≤ 46 years, bilateral or multifocal tumors, or at least 1 first-degree relative with RCC. Out of the patients with a P/LP result, 18 patients (39.1%) had a potentially actionable mutation. Conclusions: Among patients with RCC who were unselected for a known familial/hereditary predisposition, P/LP variants were present in 13.4% which is consistent with previous studies. The prevalence of FLCN mutations was higher in our cohort (3.1%) compared to prior observations. Most patients with a P/LP variant met the NCCN criteria for genetic testing. Future studies should optimize the current genetic testing criteria to identify a broader group of patients who may have germline mutations given potential cascade testing and therapeutic implications.