Rahman, N. Realising the promise of cancer predisposition genes. Nature 505, 302–308 (2014).
Article CAS PubMed PubMed Central Google Scholar
Groden, J. et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66, 589–600 (1991).
Article CAS PubMed Google Scholar
Nishisho, I. et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253, 665–669 (1991).
Article CAS PubMed Google Scholar
Yen, T. et al. APC-Associated Polyposis Conditions. 1998 [Updated 2022]. In: Adam, M. P. et al. (eds) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Zaffaroni, G. et al. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br. J. Surg. 111, znae070 (2024).
Article PubMed PubMed Central Google Scholar
National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2023. (National Comprehensive Cancer Network, 2023).
Valle, L. & Monahan, K. J. Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management. Lancet Gastroenterol. Hepatol. 9, 68–82 (2024).
Article CAS PubMed Google Scholar
Grover, S. et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 308, 485–492 (2012).
Article CAS PubMed PubMed Central Google Scholar
Stanich, P. P. et al. Prevalence of germline mutations in polyposis and colorectal cancer–associated genes in patients with multiple colorectal polyps. Clin. Gastroenterol. Hepatol. 17, 2008–2015.e3 (2019).
Article CAS PubMed Google Scholar
Aretz, S. et al. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J. Med. Genet. 42, 185–192 (2005).
Article CAS PubMed PubMed Central Google Scholar
Rohlin, A. et al. Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. Oncogene 30, 4977–4989 (2011).
Article CAS PubMed PubMed Central Google Scholar
Chung, C. C. Y. et al. Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations. Genet. Med. 25, 100896 (2023).
Article CAS PubMed Google Scholar
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).
Huddleston, J. et al. Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res. 27, 677–685 (2017).
Article CAS PubMed PubMed Central Google Scholar
Beck, C. R., Garcia-Perez, J. L., Badge, R. M. & Moran, J. V. LINE-1 elements in structural variation and disease. Annu. Rev. Genomics Hum. Genet. 12, 187–215 (2011).
Article CAS PubMed PubMed Central Google Scholar
Deininger, P. Alu elements: know the SINEs. Genome Biol. 12, 236 (2011).
Article CAS PubMed PubMed Central Google Scholar
Dombroski, B. A., Mathias, S. L., Nanthakumar, E., Scott, A. F. & Kazazian, H. H. Isolation of an active human transposable element. Science 254, 1805–1808 (1991).
Article CAS PubMed Google Scholar
Ostertag, E. M. & Kazazian, H. H. Jr Biology of mammalian L1 retrotransposons. Annu. Rev. Genet. 35, 501–538 (2001).
Article CAS PubMed Google Scholar
Hancks, D. C. & Kazazian, H. H. Roles for retrotransposon insertions in human disease. Mob. DNA 7, 9 (2016).
Article PubMed PubMed Central Google Scholar
Vogt, J. et al. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol. 15, R80 (2014).
Article PubMed PubMed Central Google Scholar
Zhou, D. et al. Insertion of LINE-1 Retrotransposon inducing exon inversion causes a rotor syndrome phenotype. Front. Genet. 10, 1–6 (2020).
Belancio, V. P., Roy-Engel, A. M. & Deininger, P. The impact of multiple splice sites in human L1 elements. Gene 411, 38–45 (2008).
Article CAS PubMed PubMed Central Google Scholar
Van Belzen, I. A. E. M., Schönhuth, A., Kemmeren, P. & Hehir-Kwa, J. Y. Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology. npj Precis. Onc 5, 1–11 (2021).
Sedlazeck, F. J., Lee, H., Darby, C. A. & Schatz, M. C. Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat. Rev. Genet. 19, 329–346 (2018).
Article CAS PubMed Google Scholar
Carvalho, C. M. B. & Lupski, J. R. Mechanisms underlying structural variant formation in genomic disorders. Nat. Rev. Genet 17, 224–238 (2016).
Article CAS PubMed PubMed Central Google Scholar
Joe, S. et al. Comparison of structural variant callers for massive whole-genome sequence data. BMC Genomics 25, https://doi.org/10.1186/s12864-024-10239-9 (2024).
Yang, L. A practical guide for structural variation detection in the human genome. CP Hum. Genet. 107, e103 (2020).
Huddleston, J. & Eichler, E. E. An incomplete understanding of human genetic variation. Genetics 202, 1251–1254 (2016).
Article CAS PubMed PubMed Central Google Scholar
Korbel, J. O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420–426 (2007).
Article CAS PubMed PubMed Central Google Scholar
De Coster, W. & Van Broeckhoven, C. Newest methods for detecting structural variations. Trends Biotechnol. 37, 973–982 (2019).
Mitsuhashi, S. & Matsumoto, N. Long-read sequencing for rare human genetic diseases. J. Hum. Genet. 65, 11–19 (2020).
Nurk, S. et al. The complete sequence of a human genome. Science 376, 44–53 (2022).
Article CAS PubMed PubMed Central Google Scholar
Aretz, S. et al. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. Hum. Mutat. 24, 370–380 (2004).
Article CAS PubMed Google Scholar
Grandval, P. et al. The UMD-APC Database, a model of nation-wide knowledge base: update with data from 3,581 variations. Hum. Mutat. 35, 532–536 (2014).
Article CAS PubMed Google Scholar
Altschul, S. F., Gish, W., Miller, W., Myers, E. W. & Lipman, D. J. Basic local alignment search tool. J. Mol. Biol. 215, 403–410 (1990).
Comments (0)