ArticleCancer2020
Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
Article in Cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of 'moderate risk' genetic results in a population breast cancer screening trial.Journal of genetic counseling · 2022Trial
- Breast cancer screening adherence after multigene panel testing among women with pathogenic variants in moderate-risk genes or with empirically increased breast cancer risk.Breast cancer research and treatment · 2026Article
- Article
- LncRNA LOXL1-AS1 promotes ovarian cancer progression by enhanced BRIP1 mRNA stability.Medical oncology (Northwood, London, England) · 2025Article
- Clinician Recommendation for Hereditary Genetic Testing in Participants at Increased Risk for Hereditary Cancer.Cancers · 2025Article
- Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present.Current oncology (Toronto, Ont.) · 2025Review
- Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients.Journal of community genetics · 2024Article
- CharacterizingFrontiers in oncology · 2024Article
- Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis.Scientific reports · 2023Article
- Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.Hereditary cancer in clinical practice · 2022Review
- Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.European journal of human genetics : EJHG · 2022Review
- Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer.Familial cancer · 2022Article
- Short-chain L-3-hydroxyacyl-CoA dehydrogenase: A novel vital oncogene or tumor suppressor gene in cancers.Frontiers in pharmacology · 2022Review
- Comprehensive Molecular Profiling of Colorectal Cancer With Situs Inversus Totalis by Next-Generation Sequencing.Frontiers in oncology · 2022Article
- Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis.JMIR cancer · 2021Article
- Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness.Military medicine · 2021Article
- Article
- TC2N: A Novel Vital Oncogene or Tumor Suppressor Gene In Cancers.Frontiers in immunology · 2021Review
- "When I Look in the Mirror, I Want to See a Healthy Body": The Lived Experience of Young Previvors, Bilateral Risk-Reducing Mastectomy, and Body Image.Global qualitative nursing researchArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough management guidelines exist for several genes associated with a 2-fold to 5-fold increase in the relative risk for certain cancers, the value of testing for them remains controversial.
methodsDe-identified personal and family history data for 654 individuals with pathogenic variants (PVs) in PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and/or RAD51D were analyzed for pretest and post-test candidacy for guideline-recommended management of cancer risk. These individuals were invited to complete a survey about provider recommendations and their adherence.
resultsTwenty-four percent of CHEK2, ATM, PALB2, or NBN PV carriers were appropriate for consideration of annual breast magnetic resonance imaging screening before genetic testing, with the remaining 76% appropriate only after testing. No BRIP1, RAD51C, or RAD51D PV carriers were appropriate for consideration of risk-reducing salpingo-oophorectomy before genetic testing; 100% were appropriate only after testing. Seventeen percent of CHEK2 PV carriers were appropriate for earlier and more frequent colonoscopy before genetic testing, with the remaining 83% appropriate only after testing. Provider recommendations for annual breast magnetic resonance imaging, consideration of risk-reducing salpingo-oophorectomy, and earlier and more frequent colonoscopy were reported by 42%, 26%, and 66% of breast, ovarian, and colorectal cancer risk PV carriers, respectively, before genetic testing, versus 82%, 79%, and 81%, respectively, after testing. Nearly all respondents had planned or undertaken provider-recommended management.
conclusionsTesting for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D changed management for those carrying PVs. Provider recommendations were aligned with guidelines, and patients adhered to recommendations, both of which are critical for reducing both long-term cancer morbidity and mortality.
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