ArticleJournal of cancer research and clinical oncology2021
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Article in Journal of cancer research and clinical oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Special Issue "Molecular Research and Cellular Biology of Breast Cancer".International journal of molecular sciences · 2026Article
- "Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.European journal of human genetics : EJHG · 2026Article
- Factors influencing public willingness to participate in population-based hereditary cancer genetic testing: a qualitative study of public preferences.Familial cancer · 2026Article
- Re-evaluating hereditary breast and ovarian cancer risk: clinical impact of updated multigene panel sequencing and genetic counseling.Familial cancer · 2026Article
- Article
- Pathological features of BRCA-mutated breast cancer in Shenzhen, China: a single-center study.PeerJ · 2026Article
- Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.Human mutation · 2026Article
- Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.Familial cancer · 2025Article
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Retrospective Study of Genetic Testing Results Reveals Pathogenic Variants Beyond BRCA1/2 in Hereditary Breast and Ovarian Cancer Cases in New Brunswick: Implications for Future Care.Cancer medicine · 2025Article
- Observational
- Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.International journal of molecular sciences · 2024Article
- BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients.BMC medical genomics · 2024Article
- The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.Cancers · 2023Article
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- Recommendations for the implementation of genetic testing for metastatic prostate cancer patients in Canada.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2022Article
- PMS2 variant results in loss of ATPase activity without compromising mismatch repair.Molecular genetics & genomic medicine · 2022Article
- Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.Cancers · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe aim of this study was to determine the diagnostic yield of multigene panel testing among patients referred with hereditary breast and ovarian cancer (HBOC).
methodsPatients who met provincial eligibility criteria were tested at the Advanced Molecular Diagnostic Laboratory at Mount Sinai Hospital, Toronto. Gene sequencing and exon-level copy number variant (CNV) analysis was performed. The referring physician had the opportunity to choose between several different gene panels based on patient phenotype. Cases were included in the analysis based on personal and family history of cancer and the type of panel ordered.
results3251 cases that received panel testing were included in this analysis. Overall, 9.1% (295) had a positive (pathogenic or likely pathogenic) result and 27.1% (882) had an inconclusive result (variant of uncertain significance). The genes with the highest prevalence of positive results were in BRCA2 (2.2%, 71/3235), BRCA1 (1.9%, 62/3235), and CHEK2 (1.4%, 40/2916). Of the positive cases, 9.8% (29) had a pathogenic or likely pathogenic variant in a gene associated with Lynch syndrome (MSH6, MSH2, MLH1, or PMS2).
conclusionsOur overall positive yield is similar to that reported in the literature. The yield of inconclusive results was three times that of positive results. By testing more individuals in families with HBOC and through data-sharing efforts, the clinical significance of most variants may eventually be determined and panel testing for monogenic cancer predisposition syndromes will have greater utility.
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