Search Results - "Krukenberg, Rebekah"
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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Published in NPJ precision oncology (24-02-2020)“…Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact…”
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2
Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings
Published in Journal of genetic counseling (01-12-2018)“…An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date,…”
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Two Decades of Huntington Disease Testing: Patient’s Demographics and Reproductive Choices
Published in Journal of genetic counseling (01-10-2013)“…Predictive testing for Huntington disease (HD) has been available in the United States (US) since 1987, and the Indiana University Predictive Testing Program…”
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4
RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families
Published in BMJ case reports (29-04-2022)“…Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain…”
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Outcomes of the BRCA quality improvement dissemination program in three health systems
Published in Journal of clinical oncology (01-06-2022)“…10603 Background: The BRCA Quality Improvement Dissemination Program (BQIDP) was disseminated to 3 community-based health systems’ oncology clinics in 2017…”
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Outcomes of the "BRCA Quality Improvement Dissemination Program": An initiative to improve patient receipt of cancer genetics services at five health systems
Published in Gynecologic oncology (01-05-2023)“…A quality improvement initiative (QII) was conducted with five community-based health systems' oncology care centers (sites A–E). The QII aimed to increase…”
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Abstract P6-08-08: Concurrent DNA and RNA genetic testing identifies more patients with hereditary breast cancer than DNA testing alone
Published in Cancer research (Chicago, Ill.) (15-02-2020)“…Abstract BACKGROUND: Germline genetic testing is routinely incorporated into clinical care for breast cancer patients to inform management decisions and reduce…”
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Dissemination of universal genetic testing to three unique oncology care settings
Published in Journal of clinical oncology (20-05-2017)“…Abstract only 1590 Background: Efforts are occurring across the United States to improve the rates of identification and standard of care genetic counseling…”
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9
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Published in NPJ precision oncology (24-02-2020)“…Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact…”
Get full text
Journal Article