ArticleJournal of medical genetics2017
Rare, protein-truncating variants in
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 93 citations in OpenAlex.
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- Biological basis and clinical translation prospects of circulating cell-free DNA in precision management of breast cancer (Review).Oncology letters · 2026Review
- Phosphoproteome landscape of ARID1A and its implications in DNA damage response and breast cancer pathogenesis.Discover oncology · 2026Article
- Skin cancer risk in hereditary mixed cancer syndromes.Hereditary cancer in clinical practice · 2025Review
- Association of gene variant type and location with breast cancer risk in the general population.Annals of oncology : official journal of the European Society for Medical Oncology · 2025Article
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Winner's curse in rare variant analysis: effect size estimation bias depends on effect direction and the association method used.Frontiers in genetics · 2025Article
- Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.Breast cancer research and treatment · 2025Article
- Genetic landscape of Romanian PPGLs.Journal of cellular and molecular medicine · 2024Article
- Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.Journal of breast cancer · 2024Article
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Protein-truncating and rare missense variants inJournal of medical genetics · 2024Article
- Review
- Molecular portraits of cell cycle checkpoint kinases in cancer evolution, progression, and treatment responsiveness.Science advances · 2023Article
- Review
- Novel CandidateCancers · 2023Article
- Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.Turk patoloji dergisi · 2023Article
- Association between missense variants of uncertain significance in theFrontiers in genetics · 2023Article
- Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma.International journal of molecular sciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundBreast cancer (BC) is the most common malignancy in women and has a major heritable component. The risks associated with most rare susceptibility variants are not well estimated. To better characterise the contribution of variants in
methodsGene coding regions were enriched via PCR, sequenced, variant called and filtered for quality. ORs for BC risk were estimated separately for carriers of truncating variants and of rare missense variants, which were further subdivided by functional domain and pathogenicity as predicted by four
resultsTruncating variants in
conclusionsTruncating variants 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.