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  • 1
    Online Resource
    Online Resource
    American Association for Cancer Research (AACR) ; 2022
    In:  Cancer Research Vol. 82, No. 4_Supplement ( 2022-02-15), p. P5-14-07-P5-14-07
    In: Cancer Research, American Association for Cancer Research (AACR), Vol. 82, No. 4_Supplement ( 2022-02-15), p. P5-14-07-P5-14-07
    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. The COST tool, a validated measure, was used for assessment of FT; scores were divided into tertiles, with high FT defined as COST score ≤ 24. Results: 265 BRCA positive female patients met enrollment criteria; 76 (28.7%) had responded at time of this analysis. Respondents were primarily non-Hispanic White (97.4%), privately insured (82.9%), employed full time (67.1%) with an annual income of $50,000-$99,000 (40.8%) and a mean age of 46.4 years. Fifty-nine patients (77.6%) reported undergoing prophylactic surgery related to their BRCA status. On chart review, 26 patients (34.2% of all respondents) had a confirmed prophylactic mastectomy and 44 patients (57.9%) had a confirmed bilateral salpingo-oophorectomy, with some patients undergoing both procedures. Cost concerns were widespread among respondents; 22.7% of participants reported delaying or avoiding care secondary to finances. Fifty-eight percent of patients wanted to know about the out-of-pocket costs of treatments before receiving them, but only 7.7% reported that costs were discussed. No statistically significant association was seen amongst the high FT and low/medium FT groups re: annual income, insurance type, marital status, or race. Patients with high FT were more likely to engage in all cost-saving measures, with a striking 41.7% of patients reporting delays/avoidance of care due to cost (p=0.02). High FT patients also were more likely to borrow money (16.7%, p=0.01), use savings for care (54.2%, p=0.04), and reduce spending on both necessities (37.5%, p=0.03) and leisure activities (58.3%, p=0.01). Conclusion: This study of financial toxicity in BRCA carriers shows that many patients desire information about the costs of their care and that financial toxicity is an existing issue in this unique patient population. This work serves as the first description of FT in BRCA carriers and supports efforts to incorporate routine counseling on cost in the clinical care of these high-risk patients. Citation Format: Ellie M Proussaloglou, Alex Rosenthal, Christina Raker, Jennifer Scalia Wilbur, Katrin E Eurich, Ashley Stuckey, Katina Robison. Financial toxicity in BRCA1 and BRCA2 carriers: A pilot study [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P5-14-07.
    Type of Medium: Online Resource
    ISSN: 0008-5472 , 1538-7445
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    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2022
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    detail.hit.zdb_id: 410466-3
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  • 2
    In: Nature Genetics, Springer Science and Business Media LLC, Vol. 54, No. 11 ( 2022-11), p. 1675-1689
    Abstract: The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in clinical trials as part of the United Kingdom’s 100,000 Genomes Project. We identify an extended catalog of recurrent coding and noncoding genetic mutations that represents a source for future studies and provide the most complete high-resolution map of structural variants, copy number changes and global genome features including telomere length, mutational signatures and genomic complexity. We demonstrate the relationship of these features with clinical outcome and show that integration of 186 distinct recurrent genomic alterations defines five genomic subgroups that associate with response to therapy, refining conventional outcome prediction. While requiring independent validation, our findings highlight the potential of whole-genome sequencing to inform future risk stratification in chronic lymphocytic leukemia.
    Type of Medium: Online Resource
    ISSN: 1061-4036 , 1546-1718
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    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1494946-5
    SSG: 12
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  • 3
    In: The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society, Vol. 105, No. 6 ( 2020-06-01), p. 1918-1936
    Abstract: As many as 75% of patients with polycystic ovary syndrome (PCOS) are estimated to be unidentified in clinical practice. Objective Utilizing polygenic risk prediction, we aim to identify the phenome-wide comorbidity patterns characteristic of PCOS to improve accurate diagnosis and preventive treatment. Design, Patients, and Methods Leveraging the electronic health records (EHRs) of 124 852 individuals, we developed a PCOS risk prediction algorithm by combining polygenic risk scores (PRS) with PCOS component phenotypes into a polygenic and phenotypic risk score (PPRS). We evaluated its predictive capability across different ancestries and perform a PRS-based phenome-wide association study (PheWAS) to assess the phenomic expression of the heightened risk of PCOS. Results The integrated polygenic prediction improved the average performance (pseudo-R2) for PCOS detection by 0.228 (61.5-fold), 0.224 (58.8-fold), 0.211 (57.0-fold) over the null model across European, African, and multi-ancestry participants respectively. The subsequent PRS-powered PheWAS identified a high level of shared biology between PCOS and a range of metabolic and endocrine outcomes, especially with obesity and diabetes: “morbid obesity”, “type 2 diabetes”, “hypercholesterolemia”, “disorders of lipid metabolism”, “hypertension”, and “sleep apnea” reaching phenome-wide significance. Conclusions Our study has expanded the methodological utility of PRS in patient stratification and risk prediction, especially in a multifactorial condition like PCOS, across different genetic origins. By utilizing the individual genome–phenome data available from the EHR, our approach also demonstrates that polygenic prediction by PRS can provide valuable opportunities to discover the pleiotropic phenomic network associated with PCOS pathogenesis.
    Type of Medium: Online Resource
    ISSN: 0021-972X , 1945-7197
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    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
    detail.hit.zdb_id: 2026217-6
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