Explanipedia

Canadian consensus for the assessment and testing of Lynch syndrome Open

Melyssa Aronson, Laura Palma, Kara Semotiuk, Jennifer Nuk, Aaron Pollett , et al. · 2025

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 …

Psychological impact of risk-reducing surgery for gynecologic cancer among women with Lynch syndrome Open

Helen Huband, Kaitlin McGarragle, Crystal Hare, Melyssa Aronson, Tom Ward , et al. · 2025

HCPs should consider facilitators to surgery in women with LS contemplating RRS. HCPs should also provide women with LS more detailed post-surgery information on what to expect, and risks of other health conditions.

Psychological Impact of Risk-Reducing Surgery for Gynecologic Cancer Among Women with Lynch Syndrome Open

Helen Huband, Kaitlin McGarragle, Crystal Hare, Melyssa Aronson, Tom Ward , et al. · 2025

P298: Decoding ambiguity: Evaluating the psychological harms and utility of returning cancer variants of uncertain significance Open

Jordan Sam, Chloe Mighton, Emma Reble, Salma Shickh, Marc Clausen , et al. · 2025

Gynecologic cancer screening among women with Lynch syndrome: Information and healthcare access needs Open

Helen Huband, Kaitlin McGarragle, Crystal Hare, Melyssa Aronson, Tom Ward , et al. · 2024

Psychoeducational interventions are important to manage uncertainty associated with LS, increasing social and informational support, and informing health care providers about best practices with this population.

Autistic traits in youth with familial adenomatous polyposis: A Dutch–Canadian case–control study Open

Polina Perlman Danieli, Ny Hoang, Thanuja Selvanayagam, Alvin Yang, Elemi Breetvelt , et al. · 2024

This study investigated the neurodevelopmental impact of pathogenic adenomatous polyposis coli ( APC ) gene variants in patients with familial adenomatous polyposis (FAP), a cancer predisposition syndrome. We hypothesized that certain path…

“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening Open

Ella Adi-Wauran, Marc Clausen, Salma Shickh, Anna R. Gagliardi, Avram Denburg , et al. · 2023

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy Open

Kirsten M. Farncombe, Derek Wong, Maia Norman, Leslie E. Oldfield, Julia A. Sobotka , et al. · 2023

Desmoid Tumors in Familial Adenomatous Polyposis Patients: Favorable Outcomes with Multidisciplinary Management Open

Eisar Al‐Sukhni, Joel Shapiro, Harini Suraweera, Kara Semotiuk, Carol J. Swallow , et al. · 2023

Evaluating colonoscopy screening intervals in patients with Lynch syndrome from a large Canadian registry Open

Melyssa Aronson, Robert Gryfe, Yun‐Hee Choi, Kara Semotiuk, Spring Holter , et al. · 2023

Background Lynch syndrome (LS) screening guidelines originally recommended colonoscopy every 1 to 2 years, beginning between the ages of 20 and 25 years. Recent studies have questioned the benefits of these short screening intervals in pre…

“Game Changer”: Health Professionals’ Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management Open

Salma Shickh, Leslie E. Oldfield, Marc Clausen, Chloe Mighton, Agnes Sebastian , et al. · 2022

Background We explored health professionals’ views on the utility of circulating tumor DNA (ctDNA) testing in hereditary cancer syndrome (HCS) management. Materials and Methods A qualitative interpretive description study was conducted, us…

Incidental findings from cancer next generation sequencing panels Open

Nika Maani, Karen Panabaker, Jeanna McCuaig, Kathleen Buckley, Kara Semotiuk , et al. · 2021

Hereditary colorectal cancer screening: A 10-year longitudinal cohort study following an educational intervention Open

June Carroll, Joanne Permaul, Kara Semotiuk, E. M. Yung, Sean Blaine , et al. · 2020

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study Open

Salma Shickh, Mariana Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu , et al. · 2020

Background Exome and genome sequencing have been demonstrated to increase diagnostic yield in paediatric populations, improving treatment options and providing risk information for relatives. There are limited studies examining the clinica…

Quality of life drives patients’ preferences for secondary findings from genomic sequencing Open

Chloe Mighton, Lindsay Carlsson, Marc Clausen, Selina Casalino, Salma Shickh , et al. · 2020

Germline Variants and Phenotypic Spectrum in a Canadian Cohort of Individuals with Diffuse Gastric Cancer Open

Melyssa Aronson, Carol J. Swallow, Anand Govindarajan, Kara Semotiuk, Z. Cohen , et al. · 2020

Background: CDH1 pathogenic variants (pvs) cause most cases of inherited diffuse gastric cancer (dgc), but have low detection rates and vary geographically. In the present study, we examined hereditary causes of dgc in patients in Ontario.…

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial Open

Yvonne Bombard, Marc Clausen, Salma Shickh, Chloe Mighton, Selina Casalino , et al. · 2019

Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome Open

Kaitlin McGarragle, Melyssa Aronson, Kara Semotiuk, Spring Holter, Crystal Hare , et al. · 2019

Telephone versus in‐person colorectal cancer risk and screening intervention for first‐degree relatives: A randomized controlled trial Open

Mary Jane Esplen, S Harrington, Yvonne Leung, Melyssa Aronson, Heidi Rothenmund , et al. · 2019

Background Having a first‐degree relative (FDR) with colorectal cancer (CRC) is a significant risk factor for CRC. Counseling for FDRs regarding CRC risk factors and personalized risk is important to improve knowledge and screening complia…

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results Open

Chloe Mighton, Lindsay Carlsson, Marc Clausen, Selina Casalino, Salma Shickh , et al. · 2019

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue Open

Andrew Y. Shuen, Stella Lanni, Gagan B. Panigrahi, Melissa Edwards, Lisa Yu , et al. · 2019

Purpose Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagn…

Additional germline findings from a tumor profiling program Open

Neda Stjepanovic, Tracy Stockley, Philippe L. Bédard, Jeanna McCuaig, Melyssa Aronson , et al. · 2018

Interest in germline findings is high among patients who undergo tumor profiling. Disclosure of previously unidentified gMAVs present multiple challenges, thus supporting the involvement of a clinical genetics service in all tumor profilin…

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial Open

Salma Shickh, Marc Clausen, Chloe Mighton, Selina Casalino, Esha Joshi , et al. · 2018

Introduction Genome sequencing, a novel genetic diagnostic technology that analyses the billions of base pairs of DNA, promises to optimise healthcare through personalised diagnosis and treatment. However, implementation of genome sequenci…

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Open

Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha Speevak, John S. Waye , et al. · 2017

Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance Open

Ilana Solomon, Elizabeth A. Harrington, Gillian W. Hooker, Lori H. Erby, Jennifer E. Axilbund , et al. · 2017

Providers and patients encounter challenges related to the management of Variants of Unknown Significance (VUS). A VUS introduces new counseling dilemmas for the understanding and psychosocial impact of uncertain genetic test results. This…

Issue Information – TOC – Masthead Open

Lara Pullen, Carrie Printz, Steven Hajdu, Wendy Landier, Marina Wang , et al. · 2016

This news section offers Cancer readers timely information on events, public policy analysis, topical issues, and personalities.This edition looks at how research institutions are consolidating vast amounts of data to produce innovative re…

Germline <i>BRCA</i> Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma Open

Spring Holter, Ayelet Borgida, Anna Dodd, Robert C. Grant, Kara Semotiuk , et al. · 2015

Purpose The main purpose of this study was to determine the prevalence of pathogenic BRCA1 and BRCA2 mutations in a consecutively ascertained clinic-based cohort of patients with pancreatic ductal adenocarcinoma and describe the clinical a…

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