Characterization of large structural genetic mosaicism in human autosomes.
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- Authors
- Machiela, Mitchell J; Zhou, Weiyin; Sampson, Joshua N; Dean, Michael C; Jacobs, Kevin B; Black, Amanda; Brinton, Louise A; Chang, I-Shou; Chen, Chu; Chen, Constance; Chen, Kexin; Cook, Linda S; Crous Bou, Marta; De Vivo, Immaculata; Doherty, Jennifer; Friedenreich, Christine M; Gaudet, Mia M; Haiman, Christopher A; Hankinson, Susan E; Hartge, Patricia; Henderson, Brian E; Hong, Yun-Chul; Hosgood, H Dean; Hsiung, Chao A; Hu, Wei; Hunter, David J; Jessop, Lea; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Robert; Kraft, Peter; Lan, Qing; Lin, Dongxin; Liu, Jianjun; Le Marchand, Loic; Liang, Xiaolin; Lissowska, Jolanta; Lu, Lingeng; Magliocco, Anthony M; Matsuo, Keitaro; Olson, Sara H; Orlow, Irene; Park, Jae Yong; Pooler, Loreall; Prescott, Jennifer; Rastogi, Radhai; Risch, Harvey A; Schumacher, Fredrick; Seow, Adeline; Setiawan, Veronica Wendy; Shen, Hongbing; Sheng, Xin; Shin, Min-Ho; Shu, Xiao-Ou; VanDen Berg, David; Wang, Jiu-Cun; Wentzensen, Nicolas; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Yi-Long; Xia, Lucy; Yang, Hannah P; Yang, Pan-Chyr; Zheng, Wei; Zhou, Baosen; Abnet, Christian C; Albanes, Demetrius; Aldrich, Melinda C; Amos, Christopher; Amundadottir, Laufey T; Berndt, Sonja I; Blot, William J; Bock, Cathryn H; Bracci, Paige M; Burdett, Laurie; Buring, Julie E; Butler, Mary A; CarreΓ³n, Tania; Chatterjee, Nilanjan; Chung, Charles C; Cook, Michael B; Cullen, Michael; Davis, Faith G; Ding, Ti; Duell, Eric J; Epstein, Caroline G; Fan, Jin-Hu; Figueroa, Jonine D; Fraumeni, Joseph F; Freedman, Neal D; Fuchs, Charles S; Gao, Yu-Tang; Gapstur, Susan M; PatiΓ±o-Garcia, Ana; Garcia-Closas, Montserrat; Gaziano, J Michael; Giles, Graham G; Gillanders, Elizabeth M; Giovannucci, Edward L; Goldin, Lynn; Goldstein, Alisa M; Greene, Mark H; Hallmans, Goran; Harris, Curtis C; Henriksson, Roger; Holly, Elizabeth A; Hoover, Robert N; Hu, Nan; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Khaw, Kay-Tee; Koh, Woon-Puay; Kolonel, Laurence N; Kooperberg, Charles; Krogh, Vittorio; Kurtz, Robert C; LaCroix, Andrea; Landgren, Annelie; Landi, Maria Teresa; Li, Donghui; Liao, Linda M; Malats, Nuria; McGlynn, Katherine A; McNeill, Lorna H; McWilliams, Robert R; Melin, Beatrice S; Mirabello, Lisa; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria M; Prokunina-Olsson, Ludmila; Purdue, Mark; Qiao, You-Lin; Rabe, Kari G; Rajaraman, Preetha; Real, Francisco X; Riboli, Elio; RodrΓguez-Santiago, BenjamΓn; Rothman, Nathaniel; Ruder, Avima M; Savage, Sharon A; Schwartz, Ann G; Schwartz, Kendra L; Sesso, Howard D; Severi, Gianluca; Silverman, Debra T; Spitz, Margaret R; Stevens, Victoria L; Stolzenberg-Solomon, Rachael; Stram, Daniel; Tang, Ze-Zhong; Taylor, Philip R; Teras, Lauren R; Tobias, Geoffrey S; Viswanathan, Kala; Wacholder, Sholom; Wang, Zhaoming; Weinstein, Stephanie J; Wheeler, William; White, Emily; Wiencke, John K; Wolpin, Brian M; Wu, Xifeng; Wunder, Jay S; Yu, Kai; Zanetti, Krista A; Zeleniuch-Jacquotte, Anne; Ziegler, Regina G; de Andrade, Mariza; Barnes, Kathleen C; Beaty, Terri H; Bierut, Laura J; Desch, Karl C; Doheny, Kimberly F; Feenstra, Bjarke; Ginsburg, David; Heit, John A; Kang, Jae H; Laurie, Cecilia A; Li, Jun Z; Lowe, William L; Marazita, Mary L; Melbye, Mads; Mirel, Daniel B; Murray, Jeffrey C; Nelson, Sarah C; Pasquale, Louis R; Rice, Kenneth; Wiggs, Janey L; Wise, Anastasia; Tucker, Margaret; PΓ©rez-Jurado, Luis A; Laurie, Cathy C; Caporaso, Neil E; Yeager, Meredith; Chanock, Stephen J
- Year
- 2015
- Journal
- American journal of human genetics
- PMID
- 25748358
- DOI
- 10.1016/j.ajhg.2015.01.011
- PMCID
- PMC4375431
Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 Γ 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Ageing Through the Looking-Glass: The Different Flavours of Clonal Haematopoiesis. | Singh J et al. | β | 2026 | β |
| CHIP amplifies the risk of lymphoid malignancies in individuals with monoclonal B-cell lymphocytosis (MBL). | Boddicker NJ et al. | β | 2025 | β |
| Clonal Hematopoiesis in Cancer and Cardiovascular Disease: JACC: CardioOncology State-of-the-Art Review. | Evans MA et al. | β | 2025 | β |
| Expanded mosaic chromosomal alterations, frailty, and risks of all-cause and cause-specific mortality among Chinese and the UK adults: evidence from two prospective cohorts. | Song M et al. | β | 2025 | β |
| Multiplex gene editing models of del(7q) reveal combined <i>CUX1</i> and <i>EZH2</i> loss drives clonal expansion and drug resistance. | Jotte MRM et al. | β | 2025 | β |
| Risk of clonal hematopoiesis in families exposed to radiation following the Chornobyl accident. | Machiela MJ et al. | β | 2025 | β |
| Target practice: Opportunities for therapeutic intervention in CHIP and CCUS. | Mohammad A et al. | β | 2025 | β |
| Association of autosomal mosaic chromosomal alterations with risk of bladder cancer in Chinese adults: a prospective cohort study. | Song M et al. | β | 2024 | β |
| Body-wide chimerism and mosaicism are predominant causes of naturally occurring ABO discrepancies. | Dauber EM et al. | β | 2024 | β |
| Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. | PΓ©rez-Jurado LA et al. | β | 2024 | β |
| Clonal Hematopoiesis, Inflammation, and Hematologic Malignancy. | Kanagal-Shamanna R et al. | β | 2024 | β |
| Determinants of mosaic chromosomal alteration fitness. | Pershad Y et al. | β | 2024 | β |
| Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk. | Kishtagari A et al. | β | 2024 | β |
| Single-Cell DNA Sequencing Reveals an Evolutionary Pattern of CHIP in Transplant Eligible Multiple Myeloma Patients. | Borsi E et al. | β | 2024 | β |
| Social, Behavioral, and Clinical Risk Factors Are Associated with Clonal Hematopoiesis. | Young CD et al. | β | 2024 | β |
| The impact of mosaic loss of the Y chromosome (mLOY) in men of advanced age. | Abou Abdallah F et al. | β | 2024 | β |
| Y Chromosome Loss and Implications for Oncology. | Dirican CD et al. | β | 2024 | β |
| Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality. | Hubbard AK et al. | β | 2023 | β |
| Clonal Hematopoiesis: Origins and determinants of evolution. | Mendez LM et al. | β | 2023 | β |
| Donor cell-derived genetic abnormalities after sex mismatched allogeneic cell transplantation: a unique challenge of donor cell leukemia. | Klausner M et al. | β | 2023 | β |
| GWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas. | Machiela MJ et al. | β | 2023 | β |
| Molecular and clinical aspects relevant for counseling individuals with clonal hematopoiesis of indeterminate potential. | Cacic AM et al. | β | 2023 | β |
| Molecular differences in brain regional vulnerability to aging between males and females. | Zhou X et al. | β | 2023 | β |
| Mosaic chromosomal alterations detected in men living with HIV and the relationship to non-Hodgkin lymphoma. | Lin SH et al. | β | 2023 | β |
| Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. | Jakubek YA et al. | β | 2023 | β |
| Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa. | Zhou W et al. | β | 2023 | β |
| Risk factors for clonal hematopoiesis of indeterminate potential and mosaic chromosomal alterations. | Jakubek YA et al. | β | 2023 | β |
| Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations. | Hubbard AK et al. | β | 2023 | β |
| Shared and distinct genetic etiologies for different types of clonal hematopoiesis. | Brown DW et al. | β | 2023 | β |
| Advances in understanding the molecular basis of clonal hematopoiesis. | Alagpulinsa DA et al. | β | 2022 | β |
| Clonal Hematopoiesis Mutations in Patients with Lung Cancer Are Associated with Lung Cancer Risk Factors. | Hong W et al. | β | 2022 | β |
| Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis. | Brown DW et al. | β | 2022 | β |
| Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling. | Liu L et al. | β | 2022 | β |
| Sub-GOFA: A tool for Sub-Gene Ontology function analysis in clonal mosaicism using semantic (logical) similarity. | Katsuda T et al. | β | 2022 | β |
| The significance of CUX1 and chromosome 7 in myeloid malignancies. | Jotte MRM et al. | β | 2022 | β |
| The spectrum of sex differences in cancer. | Rubin JB | β | 2022 | β |
| Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. | Tong S et al. | β | 2022 | β |
| Decoding and rejuvenating human ageing genomes: Lessons from mosaic chromosomal alterations. | Dai X et al. | β | 2021 | β |
| Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes. | Zhou W et al. | β | 2021 | β |
| Germline risk of clonal haematopoiesis. | Silver AJ et al. | β | 2021 | β |
| Germline Variation and Somatic Alterations in Ewing Sarcoma. | Machiela MJ et al. | β | 2021 | β |
| Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. | Zekavat SM et al. | β | 2021 | β |
| Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank. | Lin SH et al. | β | 2021 | β |
| Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis. | Gao T et al. | β | 2021 | β |
| Loss of Y chromosome: An emerging next-generation biomarker for disease prediction and early detection? | Guo X et al. | β | 2021 | β |
| MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. | Glessner JT et al. | β | 2021 | β |
| Pre-HCT mosaicism increases relapse risk and lowers survival in acute lymphoblastic leukemia patients post-unrelated HCT. | Wang Y et al. | β | 2021 | β |
| Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia. | Wang Y et al. | β | 2021 | β |
| A six-attribute classification of genetic mosaicism. | MartΓnez-Glez V et al. | β | 2020 | β |
| Chromosomal alterations among age-related haematopoietic clones in Japan. | Terao C et al. | β | 2020 | β |
| Clonal chromosomal mosaicism and loss of chromosome Y in men are risk factors for SARS-CoV-2 vulnerability in the elderly | PΓ©rez-Jurado LA et al. | β | 2020 | β |
| Clonal hematopoiesis and nonhematologic disorders. | Jaiswal S | β | 2020 | β |
| Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B-cell lymphoma. | Qian L et al. | β | 2020 | β |
| Field Study of the Possible Effect of Parental Irradiation on the Germline of Children Born to Cleanup Workers and Evacuees of the Chornobyl Nuclear Accident. | Bazyka D et al. | β | 2020 | β |
| Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes. | Brown DW et al. | β | 2020 | β |
| Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates. | Tuke M et al. | β | 2020 | β |
| Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer. | Jakubek YA et al. | β | 2020 | β |
| Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals. | Danielsson M et al. | β | 2020 | β |
| Monogenic and polygenic inheritance become instruments for clonal selection. | Loh PR et al. | β | 2020 | β |
| Mosaicism in Human Health and Disease. | Thorpe J et al. | β | 2020 | β |
| Mosaic loss of human Y chromosome: what, how and why. | Guo X et al. | β | 2020 | β |
| Neurofibromatosis type 2 discordance in monozygous twins. | Amico S et al. | β | 2020 | β |
| Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts. | Narisu N et al. | β | 2019 | β |
| Clonal dominance of a donor-derived del(20q) clone after allogeneic hematopoietic stem cell transplantation in an acute myeloid leukemia patient with del(20q). | Yoon J et al. | β | 2019 | β |
| Detectible mosaic truncating PPM1D mutations, age and breast cancer risk. | Machiela MJ et al. | β | 2019 | β |
| Genetic predisposition to mosaic Y chromosome loss in blood. | Thompson DJ et al. | β | 2019 | β |
| Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. | Giannikou K et al. | β | 2019 | β |
| Mosaicism, aging and cancer. | Machiela MJ | β | 2019 | β |
| Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. | Torabi K et al. | β | 2019 | β |
| Reply to 'Mosaic loss of chromosome Y in leukocytes matters'. | Zhou W et al. | β | 2019 | β |
| A characterization of postzygotic mutations identified in monozygotic twins. | Ouwens KG et al. | β | 2018 | β |
| Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis. | Vorsanova SG et al. | β | 2018 | β |
| Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq. | Kong Y et al. | β | 2018 | β |
| Engaging Black Churches to Address Cancer Health Disparities: Project CHURCH. | McNeill LH et al. | β | 2018 | β |
| Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. | Loh PR et al. | β | 2018 | β |
| Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank. | Loftfield E et al. | β | 2018 | β |
| Sex Differences in Aging: Genomic Instability. | Fischer KE et al. | β | 2018 | β |
| The paradox of mutations and cancer. | Chanock SJ | β | 2018 | β |
| Characterization of breakpoint regions of large structural autosomal mosaic events. | Machiela MJ et al. | β | 2017 | β |
| Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. | Reina-CastillΓ³n J et al. | β | 2017 | β |
| Detection of structural mosaicism from targeted and whole-genome sequencing data. | King DA et al. | β | 2017 | β |
| Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain. | Andriani GA et al. | β | 2017 | β |
| Mosaic chromosome 20q deletions are more frequent in the aging population. | Machiela MJ et al. | β | 2017 | β |
| Mosaic chromosome Y loss and testicular germ cell tumor risk. | Machiela MJ et al. | β | 2017 | β |
| Mosaicism in health and disease - clones picking up speed. | Forsberg LA et al. | β | 2017 | β |
| Parental Age and Risk of Pediatric Cancer in the Offspring: A Population-Based Record-Linkage Study in California. | Wang R et al. | β | 2017 | β |
| The ageing genome, clonal mosaicism and chronic disease. | Machiela MJ et al. | β | 2017 | β |
| The genomics of inherited bone marrow failure: from mechanism to the clinic. | Wegman-Ostrosky T et al. | β | 2017 | β |
| Therapy-related myeloid neoplasms: when genetics and environment collide. | McNerney ME et al. | β | 2017 | β |
| Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue. | Vattathil S et al. | β | 2016 | β |
| Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. | Machiela MJ et al. | β | 2016 | β |
| Growth conditions that increase or decrease lifespan in Saccharomyces cerevisiae lead to corresponding decreases or increases in rates of interstitial deletions and non-reciprocal translocations. | Maxwell PH | β | 2016 | β |
| Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls. | Machiela MJ et al. | β | 2016 | β |
| Mosaic loss of chromosome Y is associated with common variation near TCL1A. | Zhou W et al. | β | 2016 | β |
| Phyllanthus emblica Fruit Extract Activates Spindle Assembly Checkpoint, Prevents Mitotic Aberrations and Genomic Instability in Human Colon Epithelial NCM460 Cells. | Guo X et al. | β | 2016 | β |
| Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins. | Magaard Koldby K et al. | β | 2016 | β |
| Somatic mosaicism: on the road to cancer. | FernΓ‘ndez LC et al. | β | 2016 | β |
| The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement. | Valind A et al. | β | 2016 | β |
| Perceived Stress Levels, Chemotherapy, Radiation Treatment and Tumor Characteristics Are Associated with a Persistent Increased Frequency of Somatic Chromosomal Instability in Women Diagnosed with Breast Cancer: A One Year Longitudinal Study. | Aboalela N et al. | β | 2015 | β |
| Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. | Ε½ilina O et al. | β | 2015 | β |