ArticleJournal of medical genetics2024
Protein-truncating and rare missense variants in
Article in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- ATM mutations in myelodysplastic neoplasms, acute myeloid leukemia, and myeloproliferative neoplasms: a systematic review.Medical oncology (Northwood, London, England) · 2026Pooled it
- Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls.medRxiv : the preprint server for health sciences · 2026Article
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.American journal of human genetics · 2026Article
- Age-Related Germline Landscape of Endometrial Cancer: Focus on Early-Onset Cases.JCO precision oncology · 2026Article
- Genomic Ascertainment of CHEK2-Related Cancer Predisposition.JAMA network open · 2025Article
- Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer.BJU international · 2025Article
- Case-Control Study for 23 Cancer Types With Functional Analysis ofJCO precision oncology · 2025Article
- Associations betweenJournal of medical genetics · 2025Article
- Breast, Colorectal, and Pancreatic Cancer Mortality With Pathogenic Variants inJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.Molecular biology reports · 2025Article
- Comprehensive review of drug resistance in mammalian cancer stem cells: implications for cancer therapy.Cancer cell international · 2024Review
- A missense variant effect map for the human tumor-suppressor protein CHK2.American journal of human genetics · 2024Article
- Breast cancer and ATM mutations: treatment implications.Hereditary cancer in clinical practice · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
backgroundDeleterious germline variants in
methodsCancer associations for coding variants in
resultsPTVs in
conclusionPTVs in
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.