ReviewFrontiers in genetics2021
Germline Structural Variations in Cancer Predisposition Genes.
Review in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Demography and Localized Reservoirs of Diversity Underlie Global Divergence in the Giant Kelp Macrocystis pyrifera.Molecular ecology · 2026Article
- Contemporary risk assessment and risk-reducing strategies for tubo-ovarian cancer in women with BRCA pathogenic variants.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2026Review
- Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.medRxiv : the preprint server for health sciences · 2026Article
- Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.Human mutation · 2026Article
- Article
- A sequence context-based approach for classifying tumor structural variants without paired normal samples.Cell reports methods · 2025Article
- Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models.European urology open science · 2025Article
- Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.NPJ genomic medicine · 2025Article
- Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.Genetics in medicine open · 2025Article
- Comparison of germline and somatic structural variants in cancers reveal systematic differences in variant generating and selection processes.bioRxiv : the preprint server for biology · 2024Article
- A review of the pangenome: how it affects our understanding of genomic variation, selection and breeding in domestic animals?Journal of animal science and biotechnology · 2023Review
- Article
- Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In addition to single nucleotide variations and small-scale indels, structural variations (SVs) also contribute to the genetic diversity of the genome. SVs, such as deletions, duplications, amplifications, or inversions may also affect coding regions of cancer-predisposing genes. These rearrangements may abrogate the open reading frame of these genes or adversely affect their expression and may thus act as germline mutations in hereditary cancer syndromes. With the capacity of disrupting the function of tumor suppressors, structural variations confer an increased risk of cancer and account for a remarkable fraction of heritability. The development of sequencing techniques enables the discovery of a constantly growing number of SVs of various types in cancer predisposition genes (CPGs). Here, we provide a comprehensive review of the landscape of germline SV types, detection methods, pathomechanisms, and frequency in CPGs, focusing on the two most common cancer syndromes: hereditary breast- and ovarian cancer and gastrointestinal cancers. Current knowledge about the possible molecular mechanisms driving to SVs is also summarized.
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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.