Jennifer Nuk
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View article: Canadian consensus for the assessment and testing of Lynch syndrome
Canadian consensus for the assessment and testing of Lynch syndrome Open
Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome caused by a germline pathogenic variant, or epigenetic silencing, of a mismatch repair (MMR) gene, leading to a wide cancer spectrum with gene-specific …
View article: P567: Exploring attitudes towards a new genetic test: Potential applications and ethical considerations of parent-of-origin-aware genomic analysis
P567: Exploring attitudes towards a new genetic test: Potential applications and ethical considerations of parent-of-origin-aware genomic analysis Open
View article: Improving Access to Hereditary Testing in Pancreatic Ductal Carcinoma
Improving Access to Hereditary Testing in Pancreatic Ductal Carcinoma Open
PURPOSE Approximately 5%-10% of patients with pancreatic ductal adenocarcinoma (PDAC) have an inherited basis, yet uptake of genetic testing remains low and subject to disparities. This study compared two genetic testing pathways available…
View article: Correction: Gill et al. Report from the 24th Annual Western Canadian Gastrointestinal Cancer Consensus Conference on Colorectal Cancer, Richmond, British Columbia, 28–29, October 2022. Curr. Oncol. 2023, 30, 7964–7983
Correction: Gill et al. Report from the 24th Annual Western Canadian Gastrointestinal Cancer Consensus Conference on Colorectal Cancer, Richmond, British Columbia, 28–29, October 2022. Curr. Oncol. 2023, 30, 7964–7983 Open
Karen Mulder was not included as an author in the original publication [...]
View article: P658: Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband’s blood sample
P658: Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband’s blood sample Open
Parent-of-Origin-Aware genomic analysis (POAga) using Oxford Nanopore Technologies long-read sequencing combined with Strand-seq enables assignment of any autosomal variant to either parent with 99% accuracy using only the blood sample of …
View article: Report from the 24th Annual Western Canadian Gastrointestinal Cancer Consensus Conference on Colorectal Cancer, Richmond, British Columbia, 28–29, October 2022
Report from the 24th Annual Western Canadian Gastrointestinal Cancer Consensus Conference on Colorectal Cancer, Richmond, British Columbia, 28–29, October 2022 Open
The 24th annual Western Canadian Gastrointestinal Cancer Consensus Conference (WCGCCC) was held in Richmond, British Columbia, on 28–29 October 2022. The WCGCCC is an interactive multidisciplinary conference attended by healthcare professi…
View article: Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis
Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis Open
Over the last decade, utilization of clinical genetics services has grown rapidly, putting increasing pressure on the workforce available to deliver genetic healthcare. To highlight the policy challenges facing Canadian health systems, a n…
View article: Genetic testing practices among specialist physicians who treat prostate cancer
Genetic testing practices among specialist physicians who treat prostate cancer Open
Introduction: In patients with prostate cancer (PCa), the identification of an alteration in genes associated with homologous recombination repair (HRR) has implications for prognostication, optimization of therapy, and familial risk mitig…
View article: Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach
Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach Open
Introduction Genetic testing for hereditary cancer syndromes (HCSs) can improve health outcomes through cancer risk mitigation strategies. Effective communication between tested individuals and their family members is key to reducing the h…
View article: O35: Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants in SDHD without parental data*
O35: Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants in SDHD without parental data* Open
View article: Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers
Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers Open
INTRODUCTION: Uninformative germline genetic testing presents a challenge to clinical management for patients suspected to have Lynch syndrome, a cancer predisposition syndrome caused by germline variants in the mismatch repair (MMR) genes…
View article: Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis
Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis Open
A substantial proportion of people at risk for hereditary colorectal cancer do not undergo genetic testing. This gap highlights the need to explore barriers to testing and to consider interventions to promote uptake; more aggressive effort…
View article: Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication
Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication Open
Background Multi‐gene panel testing is replacing single‐gene testing for patients with suspected hereditary cancer syndromes. The detection of a hereditary cancer syndrome allows tested individuals to initiate enhanced primary and secondar…
View article: Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening Open
Background Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC…
View article: Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System
Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System Open
New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based…
View article: Thorough in silico and in vitro cDNA analysis of 21 putative<i>BRCA1</i>and<i>BRCA2</i>splice variants and a complex tandem duplication in<i>BRCA2</i>allowing the identification of activated cryptic splice donor sites in<i>BRCA2</i>exon 11
Thorough in silico and in vitro cDNA analysis of 21 putative<i>BRCA1</i>and<i>BRCA2</i>splice variants and a complex tandem duplication in<i>BRCA2</i>allowing the identification of activated cryptic splice donor sites in<i>BRCA2</i>exon 11 Open
For 21 putative BRCA1 and BRCA2 splice site variants, the concordance between mRNA analysis and predictions by in silico programs was evaluated. Aberrant splicing was confirmed for 12 alterations. In silico prediction tools were helpful to…