Search Results - "Reisle, Caralyn"
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Homologous Recombination Deficiency and Platinum-Based Therapy Outcomes in Advanced Breast Cancer
Published in Clinical cancer research (15-12-2017)“…Recent studies have identified mutation signatures of homologous recombination deficiency (HRD) in over 20% of breast cancers, as well as pancreatic, ovarian,…”
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Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
Published in Genetics in medicine (01-11-2020)“…Purpose Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation…”
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MAVIS: merging, annotation, validation, and illustration of structural variants
Published in Bioinformatics (01-02-2019)“…Abstract Summary Reliably identifying genomic rearrangements and interpreting their impact is a key step in understanding their role in human cancers and…”
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A platform for oncogenomic reporting and interpretation
Published in Nature communications (09-02-2022)“…Manual interpretation of variants remains rate limiting in precision oncology. The increasing scale and complexity of molecular data generated from…”
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Integrative genomic analysis of ghost cell odontogenic carcinoma
Published in Oral oncology (01-09-2015)“…Highlights • First whole genome and transcriptome profiling of ghost cell odontogenic carcinoma. • Mutations were detected in novel and known cancer genes. •…”
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Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma
Published in NPJ precision oncology (19-03-2018)“…Eccrine porocarcinomas (EPs) are rare malignant tumours of the intraepidermic sweat gland duct and most often arise from benign eccrine poromas. Some recurrent…”
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Uncovering Clinically Relevant Gene Fusions with Integrated Genomic and Transcriptomic Profiling of Metastatic Cancers
Published in Clinical cancer research (15-01-2021)“…Gene fusions are important oncogenic drivers and many are actionable. Whole-genome and transcriptome (WGS and RNA-seq, respectively) sequencing can discover…”
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Abstract 98: Personalized therapy choice integrating genome and expression data in advanced cancers
Published in Cancer research (Chicago, Ill.) (01-07-2021)“…Abstract Sequencing technology is increasingly essential in clinical cancer management. The majority of clinical cancer sequencing has focused on panel…”
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84. Benefits of integrating an open-source knowledgebase in a precision oncology workflow
Published in Cancer genetics (01-11-2022)Get full text
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25. Enhancing precision oncology: The value of open-source knowledgebase integration
Published in Cancer genetics (01-08-2024)“…Precision oncology relies on advanced sequencing technologies to guide treatment strategies, yet effectively translating genomic data into actionable insights…”
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Evolution of genomic instability in metastatic cancer
Published in Journal of clinical oncology (20-05-2018)“…Abstract only…”
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Abstract 2473: Breast cancer whole genomes link homologous recombination deficiency (HRD) with therapeutic outcomes
Published in Cancer research (Chicago, Ill.) (01-07-2017)“…Abstract Background: Homologous recombination deficiency (HRD) is common in cancer - germline BRCA1 & BRCA2 mutations account for 5-10% of breast cancers and…”
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Abstract A184: Clinical application of whole genome and transcriptome sequencing in cancer care
Published in Molecular cancer therapeutics (01-01-2018)“…Abstract Aim: To investigate feasibility and utility of whole genome and RNA sequencing in cancer care. The use of comprehensive personal genomic information…”
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Abstract PR02: Integrated genomic analysis of a recurrent ghost cell odontogenic carcinoma
Published in Clinical cancer research (01-01-2016)“…Abstract Introduction: The Personalized OncoGenomics (POG) project launched at the British Columbia Cancer Agency uses genome analyses to support cancer…”
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Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis
Published in Cold Spring Harbor molecular case studies (01-04-2019)“…We report a case of early-onset pancreatic ductal adenocarcinoma in a patient harboring biallelic germline mutations, whose tumor featured somatic mutational…”
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Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2 :c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma
Published in Cold Spring Harbor molecular case studies (01-09-2017)“…We describe a woman with the known pathogenic germline variant :c.1100delC and synchronous diagnoses of both pelvic genital type leiomyosarcoma (LMS) and…”
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Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma
Published in NPJ precision oncology (01-01-2018)“…Eccrine porocarcinomas (EPs) are rare malignant tumours of the intraepidermic sweat gland duct and most often arise from benign eccrine poromas. Some recurrent…”
Get full text
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