ArticleHuman mutation2018
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.European journal of human genetics : EJHG · 2024Guideline
- Factors Affecting Quality Control (QC) Failure Rates in Somatic Breast Cancer (BRCA) Gene Testing in Castrate Resistant Prostate Cancer: Experiences From an Australian Cancer Care Centre.Asia-Pacific journal of clinical oncology · 2026Article
- Implementation of a stepwise process for somatic testing in patients with a new diagnosis of germline negative epithelial ovarian cancer.Gynecologic oncology reports · 2025Article
- Homologous recombination deficiency among patients with germline or somatic non-BRCA1/2 homologous recombination repair gene variations.NPJ precision oncology · 2025Article
- Evaluation of Homologous Recombination Deficiency in Ovarian Cancer.Current treatment options in oncology · 2024Review
- Characterization of BRCA Deficiency in Ovarian Cancer.Cancers · 2023Article
- DNA repair deficiency as circulating biomarker in prostate cancer.Frontiers in oncology · 2023Review
- Laboratory Cross-Comparison and Ring Test Trial for TumorJournal of personalized medicine · 2022Article
- A commentary on the discrepancy between blood and tumour BRCA testing: An open question.BJOG : an international journal of obstetrics and gynaecology · 2022Article
- Identification of the c.829_832delAATA Deletion Variants in theJournal of genomics · 2022Article
- Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology.Frontiers in oncology · 2022Article
- Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.Journal of personalized medicine · 2021Article
- Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.International journal of molecular sciences · 2021Review
- Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program.Molecular oncology · 2021Article
- Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer.Obstetrics & gynecology science · 2020Article
- Cold Formalin Fixation Guarantees DNA Integrity in Formalin Fixed Paraffin Embedded Tissues: Premises for a Better Quality of Diagnostic and Experimental Pathology With a Specific Impact on Breast Cancer.Frontiers in oncology · 2020Article
- Main implications related to the switch toOncotarget · 2018Article
- An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.Human mutation · 2018Article
- [BRCA diagnostics of ovarian cancer : Molecular tumor testing since the introduction of PARP inhibitor therapy].Der Pathologe · 2017Article
Corrections and comments
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Authors and funding
27 authors at 12 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment with poly ADP ribose polymerase (PARP) inhibitors. Tumor BRCA1/2 testing is more challenging than germline testing as the majority of samples are formalin-fixed paraffin embedded (FFPE), the tumor genome is complex, and the allelic fraction of somatic variants can be low. We collaborated with 10 laboratories testing BRCA1/2 in tumors to compare different approaches to identify clinically important variants within FFPE tumor DNA samples. This was not a proficiency study but an inter-laboratory comparison to identify common issues. Each laboratory received the same tumor DNA samples ranging in genotype, quantity, quality, and variant allele frequency (VAF). Each laboratory performed their preferred next-generation sequencing method to report on the variants. No false positive results were reported in this small study and the majority of methods detected the low VAF variants. A number of variants were not detected due to the bioinformatics analysis, variant classification, or insufficient DNA. The use of hybridization capture or short amplicon methods are recommended based on a bioinformatic assessment of the data. The study highlights the importance of establishing standards and standardization for tBRCA testing particularly when the test results dictate clinical decisions regarding life extending therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.