ReviewBiomarkers in medicine2014
Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.
Review in Biomarkers in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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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.
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.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Genetic epidemiology · 2016Pooled it
- Associations betweenJournal of medical genetics · 2025Article
- Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients.Human genomics · 2025Article
- Breast cancer risks associated with missense variants in breast cancer susceptibility genes.Genome medicine · 2022Article
- Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients.Clinical genetics · 2021Article
- A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.Breast cancer research : BCR · 2019Article
- Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.International journal of cancer · 2019Article
- Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.Familial cancer · 2018Article
- XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets.Nucleic acids research · 2018Article
- Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.PLoS genetics · 2018Article
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Multigene testing of moderate-risk genes: be mindful of the missense.Journal of medical genetics · 2016Article
- PALB2: research reaching to clinical outcomes for women with breast cancer.Hereditary cancer in clinical practice · 2016Review
- Article
- Gene-panel sequencing and the prediction of breast-cancer risk.The New England journal of medicine · 2015Article
- Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Most cancer susceptibility genes function as tumor suppressors; accordingly, the focus of mutation screening in breast cancer families has been to identify protein-truncating mutations. However, it is now clear that, for some breast cancer susceptibility genes, a significant proportion of the burden of disease comes from rare missense substitutions. Among genes that have been extensively evaluated, BRCA1, BRCA2, PALB2 and BRIP1 stand as examples where the majority of mutations lead to protein truncation;TP53 provides a counter example, where the majority of pathogenic variants are missense substitutions. In ATM and CHEK2, missense substitutions are probably equally or more important in terms of their frequency and attributable risk. Therefore, ongoing efforts to identify new susceptibility genes should not ignore missense variation.
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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.