ArticleJournal of medical genetics2022
Constitutional chromothripsis of the
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Micronuclei: origins, assays, mechanisms, diseases and treatments.Signal transduction and targeted therapy · 2026Review
- A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Familial cancer · 2025Review
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.NPJ genomic medicine · 2025Article
- High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics.Human genome variation · 2024Article
- The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.American journal of human genetics · 2024Article
- Long read sequencing on its way to the routine diagnostics of genetic diseases.Frontiers in genetics · 2024Review
- Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease.Frontiers in genetics · 2024Article
- Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.Frontiers in genetics · 2024Article
- Update on Surgical Management of FAP.Clinics in colon and rectal surgery · 2023Review
- Extrachromosomal circular DNA in colorectal cancer: biogenesis, function and potential as therapeutic target.Oncogene · 2023Review
- Using of endoscopic polypectomy in patients with diagnosed malignant colorectal polyp - The cross-sectional clinical study.Open medicine (Warsaw, Poland) · 2023Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeApproximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the
methodsWe applied multidimensional genomic analysis employing chromosomal microarray profiling, optical mapping, long-read genome and RNA sequencing combined with FISH and standard PCR of genomic and complementary DNA to decode a patient with an attenuated FAP that had remained unsolved by Sanger sequencing and multigene panel next-generation sequencing for years.
resultsWe identified a complex 3.9 Mb rearrangement involving 14 fragments from chromosome 5q22.1q22.3 of which three were lost, 1 reinserted into chromosome 5 and 10 inserted into chromosome 10q21.3 in a seemingly random order and orientation thus fulfilling the major criteria of chromothripsis. The rearrangement separates
conclusionsBased on comprehensive genomic analysis, we propose that constitutional chromothripsis dampening
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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.