Observational studyCancer genomics & proteomics
Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
Observational study in Cancer genomics & proteomics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Germline testing, access to genetic counseling, and treatment implications in advanced breast cancer.Annals of medicine and surgery (2012) · 2026Article
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.American journal of human genetics · 2024Article
- A Pathogenic Variant Reclassified to the PseudogeneInternational journal of molecular sciences · 2023Article
- Competencies of the UK nursing and midwifery workforce to mainstream genomics in the National Health Service: the ongoing gap between perceived importance and confidence in genomics.Frontiers in genetics · 2023Article
- Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimThe use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members. MATERIALS AND
methodsWe performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making.
resultsA total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of individuals were double heterozygotes.
conclusionGermline findings in 92% of individuals are linked to evidence-based treatment information and risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.
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