ArticleHuman mutation2020
Mutation prevalence tables for hereditary cancer derived from multigene panel testing.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature.Gynecologic oncology · 2023Pooled it
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Interventions for Population Genetic Screening in Ethnic and Racial Minorities: A Scoping Review.Journal of racial and ethnic health disparities · 2025Article
- Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling.American journal of medical genetics. Part A · 2025Article
- Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.Cancer causes & control : CCC · 2025Article
- Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.Molecular genetics and genomics : MGG · 2025Article
- Article
- A life-course approach to tackling noncommunicable diseases in women.Nature medicine · 2024Review
- Multilocus inherited neoplasia allele syndrome: report of uncommon combinations betweenEcancermedicalscience · 2024Article
- Proactive familial cancer risk assessment: a service development study in UK primary care.BJGP open · 2023Article
- Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference.Life (Basel, Switzerland) · 2023Review
- Experimental and clinical data analysis for identification of COVID-19 resistant ACE2 mutations.Scientific reports · 2023Article
- An Overview on Radiation Sensitivity in Hereditary Breast and Ovarian Cancer Syndrome.Cancers · 2022Review
- High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.Journal of medical genetics · 2022Article
- Hereditary determinants of gynecological cancer and recommendations.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2021Article
- Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis.JMIR cancer · 2021Article
- Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.Scientific reports · 2021Article
- New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.Familial cancer · 2021Article
- Mutation prevalence tables for hereditary cancer derived from multigene panel testing.Human mutation · 2020Article
- Literature Review ofGenes · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is limited, causing confusion among clinicians on which test to order. Using results from 147,994 multigene panel tests conducted at Ambry Genetics, we built an interactive prevalence tool to explore how differences in ethnicity, age of onset, and personal and family history of different cancers affect the prevalence of pathogenic mutations in 31 cancer predisposition genes, across various clinically available hereditary cancer gene panels. Over 13,000 mutation carriers were identified in this high-risk population. Most were non-Hispanic white (74%, n = 109,537), but also Black (n = 10,875), Ashkenazi Jewish (n = 10,464), Hispanic (n = 10,028), and Asian (n = 7,090). The most prevalent cancer types were breast (50%), ovarian (6.6%), and colorectal (4.7%), which is expected based on genetic testing guidelines and clinician referral for testing. The Hereditary Cancer Multi-Gene Panel Prevalence Tool presented here can be used to provide insight into the prevalence of mutations on a per-gene and per-multigene panel basis, while conditioning on multiple custom phenotypic variables to include race and cancer type.
Indexed as
Identifiers
What OpenQuestion holds
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.