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1year
Accuracy of a simplified sequencing and bioinformatics platform on genetic variant detection in patients with prostate cancer. (ASCO 2023)
Thisl data suggests that a simpler sequencing solution with appropriate bioinformatics could allow clinical laboratories with limited technical and capital resources to perform germline and possibly somatic testing in-house; use of this technology may also serve to reduce costs for labs currently performing these tests. While some labs or clinics can outsource their NGS diagnostics if such commercial options are available, these options may not be possible where transport of specimens is logistically difficult or if access to technology is limited. A simpler process for NGS testing could improve access to guideline-based care in both remote and economically disadvantaged areas, resulting in better treatment outcomes as well as increased global healthcare equity.
Clinical • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • HOXB13 (Homeobox B13)
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TruSight Hereditary Cancer Panel
1year
Accuracy of a Simplified Sequencing and Bioinformatics Platform on Genetic Variant Detection in Prostate Cancer Patients (AUA 2023)
Our data suggests that this application could allow smaller clinical laboratories which are currently outsourcing their NGS diagnostics to perform genetic testing in-house. Use of a simpler process for NGS testing could improve access to guideline-based care in remote and economically disadvantaged areas, resulting in better treatment outcomes as well as increased global healthcare equity. Further testing of this technology is warranted to further assess its impact on patient care.
Late-breaking abstract • Clinical • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • HOXB13 (Homeobox B13)
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TruSight Hereditary Cancer Panel
over1year
Efficacy of platinum-based chemotherapy and germline mutational status in early-stage triple-negative breast cancer: a unicenter retrospective analysis with long-term follow-up (SABCS 2022)
BACKGROUND: In early-stage triple negative breast cancer (TNBC), the addition of carboplatin(CBDCA) to neoadjuvant chemotherapy (CT) increases pathologic complete response (pCR)and relapsed-free survival... The addition of CBDCA to standard CT was significantly associated with pCRand RFS but not OS, consistent with the phase III data. The benefit in terms of RFS wasindependent of the presence and the type of pathogenic germline alterations.
Retrospective data • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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TP53 mutation • PALB2 mutation • PMS2 mutation
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TruSight Hereditary Cancer Panel
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carboplatin