Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening

…, A Mackenzie, K Dixon, M McCullum, J Nuk… - Cancer …, 2020 - Wiley Online Library
Background Recent guidelines recommend consideration of germline testing for all newly
diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to …

[HTML][HTML] Oncology clinic-based hereditary cancer genetic testing in a population-based health care system

…, HJ Min, Q Hong, K Compton, SW Mung, Z Lohn, J Nuk… - Cancers, 2020 - mdpi.com
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 …

[HTML][HTML] Paraganglioma and pheochromocytoma upon maternal transmission of SDHDmutations

JP Bayley, RA Oldenburg, J Nuk, AS Hoekstra… - BMC Medical …, 2014 - Springer
Background The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle
enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a …

Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication

…, S Kalloger, D Weymann, S Sun, J Nuk… - Health …, 2020 - Wiley Online Library
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 …

Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer

…, C Cremin, L Armstrong, J Nuk… - … journal of cancer, 2010 - Wiley Online Library
Lynch syndrome is defined by the presence of germline mutations in mismatch repair (MMR)
genes. Several models have been recently devised that predict mutation carrier status (…

Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program

EF Braley, AC Bedard, J Nuk, Q Hong, JEJ Bedard… - Familial Cancer, 2022 - Springer
Cascade genetic testing for hereditary cancer is highly accurate and cost-effective for
identifying individuals at high risk for cancer; however, not all eligible people utilize this service. …

Large‐scale group genetic counseling: Evaluation of a novel service delivery model in a Canadian hereditary cancer clinic

…, H Derocher, SW Mung, J Nuk… - Journal of Genetic …, 2022 - Wiley Online Library
Increasing demand for genetic services has led to the development of streamlined genetic
counseling (GC) models. We piloted large‐scale group pre‐test GC with up to 50 patients per …

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis

VK Beard, AC Bedard, J Nuk, PWC Lee… - … Open Access Journal, 2020 - cmajopen.ca
Background: Genetic testing in families with hereditary cancer enables identification of
people most likely to benefit from intensive screening and preventive measures; however, the …

Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven …

S Pollard, D Weymann, R Loewen, J Nuk… - Health …, 2023 - Wiley Online Library
Introduction Genetic testing for hereditary cancer syndromes (HCSs) can improve health
outcomes through cancer risk mitigation strategies. Effective communication between tested …

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of …

…, K Turner, C Portigal‐Todd, MJ Asrat, J Nuk… - Human …, 2018 - Wiley Online Library
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 …