ReviewNature genetics2018
Cancer genetics, precision prevention and a call to action.
Review in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 75 papers, 2 of them syntheses 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
75 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Effectiveness of Artificial Intelligence for Personalized Medicine in Neoplasms: A Systematic Review.BioMed research international · 2022Pooled it
- Validation of a Semiautomated Natural Language Processing-Based Procedure for Meta-Analysis of Cancer Susceptibility Gene Penetrance.JCO clinical cancer informatics · 2019Pooled it
- A GermlineIJU case reports · 2026Article
- Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care.European journal of human genetics : EJHG · 2026Article
- Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.Journal of translational medicine · 2025Article
- Case-Control Study for 23 Cancer Types With Functional Analysis ofJCO precision oncology · 2025Article
- Article
- Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Mechanistic Insights into Tumorigenesis from Serum Proteins.medRxiv : the preprint server for health sciences · 2025Article
- The Role of Algorithms in Molecular Tumour Boards-Managing the Gap Between Research and Clinic in Precision Medicine.Sociology of health & illness · 2025Article
- Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.Breast cancer research and treatment · 2025Article
- The role of clinical genetics in integrating cancer genetics care in Aotearoa New Zealand: improved access for improved outcomes.Journal of the Royal Society of New Zealand · 2025Article
- The Microbe, the Infection Enigma, and the Host.Annual review of microbiology · 2024Review
- Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.Cancer reports (Hoboken, N.J.) · 2024Article
- HiChIP-Based Epigenomic Footprinting Identifies a Promoter Variant of UXS1 That Confers Genetic Susceptibility to Gastroesophageal Cancer.Cancer research · 2024Article
- Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- ItaLynch: an ongoing Italian study to evaluate the feasibility of mainstreaming the diagnosis of Lynch syndrome in colorectal cancer patients.ESMO gastrointestinal oncology · 2024Article
- Cancer genetics and deep learning applications for diagnosis, prognosis, and categorization.Journal of biological methods · 2024Review
- Personalized medicine with germline pathogenic variants: Importance of population- and region-wide evidence.Cancer science · 2023Review
15 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
3 authors.
Funding
Abstract
More than 15 years have passed since the identification, through linkage, of 'first-wave' susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These genes have strong frequency-penetrance profiles, such that the associated clinical utility probably remains relevant regardless of the context of ascertainment. 'Second-wave' genes, not tractable by linkage, were subsequently identified by mutation screening of candidate genes (PALB2, ATM, CHEK2, BRIP1, RAD51C and RAD51D). Their innately weaker frequency-penetrance profiles have rendered delineation of cancer associations, risks and variant pathogenicity challenging, thereby compromising their clinical application. Early germline exome-sequencing endeavors for common cancers did not yield the long-anticipated slew of 'next-wave' genes but instead implied a highly polygenic genomic architecture requiring much larger experiments to make any substantive inroads into gene discovery. As such, the 'genetic economics' of frequency penetrance clearly indicates that focused identification of carriers of first-wave-gene mutations is most impactful for cancer control. With screening, prevention and early detection at the forefront of the cancer management agenda, we propose that the time is nigh for the initiation of national population-testing programs to identify carriers of first-wave gene mutation carriers. To fully deliver a precision prevention program, long-term, large-scale mutation studies that capture longitudinal clinical data and serial biosamples are required.
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.