ArticleFamilial cancer2019
Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed.
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- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Exploring the Melanoma and Pancreatic Cancer Phenotype of a PotentialJCO precision oncology · 2026Article
- Comprehensive Genomic Analysis in Hereditary Adrenal and Extra-Adrenal Paragangliomas.Endocrine pathology · 2026Article
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- Understanding Hispanic and Latino Perceptions on Ancestry-Targeted Screening for Hereditary Breast and Ovarian Cancer Syndrome via Democratic Deliberation.Journal of immigrant and minority health · 2026Article
- Delineation of the heterogeneity underlying genomic instability in hereditary breast cancers reveals four disease subtypes.Experimental & molecular medicine · 2026Article
- Prevalence of germline 113 cancer genes in healthy Indonesian hospital staff.Genes & genomics · 2026Article
- Multiplexed assays of variant effect for clinical variant interpretation.Nature reviews. Genetics · 2026Review
- Ancestry-informative markers and variants of uncertain significance on hereditary cancer panels.Frontiers in oncology · 2026Article
- Carbonic anhydrase VA deficiency due to a novelMolecular genetics and metabolism reports · 2025Article
- Exploring the role of germline genetic testing in surgical decision making for early-stage invasive breast cancer: insights from a safety-net hospital.Journal of community genetics · 2025Article
- MaveMD: A functional data resource for genomic medicine.medRxiv : the preprint server for health sciences · 2025Article
- Utilization of Genetic Testing and Surgical Implications in an Ethnically Diverse Hawaiian Population.Hawai'i journal of health & social welfare · 2025Article
- High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.Molecular biology reports · 2025Article
- Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.NPJ genomic medicine · 2025Article
- Implementation of Universal Germline Genetic Testing Into Standard of Care for Patients With Prostate Cancer: The Time Is Now.JCO oncology practice · 2025Article
- A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Familial cancer · 2025Review
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2 authors.
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Abstract
The identification of germline pathogenic/likely pathogenic (P/LP) variants in cancer predisposition genes can guide treatment and management decisions for the individual being tested and potentially at-risk relatives. Prior studies have raised concerns of racial/ethnic disparities in the detection rates of P/LP variants and variants of uncertain significance (VUSs). In 2018, Color Genomics™, a commercial laboratory, made de-identified, aggregate genetic and clinical information from 50,000 individuals who completed testing for 30 cancer predisposition genes publicly available. It is the largest publicly available database of its kind from a single laboratory. An analysis of individuals from this database with a negative personal history of cancer that identify as European (n = 31,920), Hispanic (n = 1700), African (n = 462) or Asian and Pacific Islander (n = 2602), demonstrated that the VUS rate in the hereditary breast and ovarian cancer syndrome and Lynch syndrome genes was higher for all non-European groups as compared to the European group; Hispanic (7.1% vs. 5.8%; p = 0.029), African (12.3% vs. 5.8%; p < 0.001), Asian and Pacific Islander (13.1% vs. 5.8%; p < 0.001). In the other cancer genes (OCGs), the P/LP rate was lower; Hispanic (5.1% vs. 7.6%; p < 0.001), African (2.4% vs. 7.6%; p < 0.001), and Asian and Pacific Islander (4.3% vs. 7.6%; p < 0.001). The VUS rate was also higher in the OCGs; Hispanic (16.2% vs. 12.2%; p < 0.001), African (21.6% vs. 12.2%; p < 0.001), Asian and Pacific Islander (24.4% vs. 12.2%; p < 0.001). Our study emphasizes the reality of disparities in the results of cancer genetic testing and highlights factors that propagate these inequities.
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