ArticleCancers2021
5' Region Large Genomic Rearrangements in the
Article in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01689584 (Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling), which is not on this map. Cited by 8 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.
Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling
Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.NPJ genomic medicine · 2025Article
- Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.Scientific reports · 2025Article
- Assessment ofJCO clinical cancer informatics · 2024Article
- Adaptive nanopore sequencing to determine pathogenicity ofJournal of medical genetics · 2023Article
- Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.European journal of human genetics : EJHG · 2023Article
- Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.Human mutation · 2022Article
- Value of the loss of heterozygosity to BRCA1 variant classification.NPJ breast cancer · 2022Article
- Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.American journal of human genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 12 institutions in 3 countries.
Funding
Abstract
backgroundLarge genomic rearrangements (LGR) in
methodsDNA from 20 families with one apparent duplication and nine deletions was analyzed with a dedicated comparative genomic hybridization (CGH) array, high-resolution BRCA1 Genomic Morse Codes analysis and Sanger sequencing.
resultsThe apparent duplication was in fact a tandem triplication of exons 1 and 2 and part of intron 2 of
conclusionsTaken together, our results firmly establish that the
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.