Detectable clonal mosaicism and its relationship to aging and cancer.
paper
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Public
- Authors
- Jacobs, Kevin B; Yeager, Meredith; Zhou, Weiyin; Wacholder, Sholom; Wang, Zhaoming; Rodriguez-Santiago, Benjamin; Hutchinson, Amy; Deng, Xiang; Liu, Chenwei; Horner, Marie-Josephe; Cullen, Michael; Epstein, Caroline G; Burdett, Laurie; Dean, Michael C; Chatterjee, Nilanjan; Sampson, Joshua; Chung, Charles C; Kovaks, Joseph; Gapstur, Susan M; Stevens, Victoria L; Teras, Lauren T; Gaudet, Mia M; Albanes, Demetrius; Weinstein, Stephanie J; Virtamo, Jarmo; Taylor, Philip R; Freedman, Neal D; Abnet, Christian C; Goldstein, Alisa M; Hu, Nan; Yu, Kai; Yuan, Jian-Min; Liao, Linda; Ding, Ti; Qiao, You-Lin; Gao, Yu-Tang; Koh, Woon-Puay; Xiang, Yong-Bing; Tang, Ze-Zhong; Fan, Jin-Hu; Aldrich, Melinda C; Amos, Christopher; Blot, William J; Bock, Cathryn H; Gillanders, Elizabeth M; Harris, Curtis C; Haiman, Christopher A; Henderson, Brian E; Kolonel, Laurence N; Le Marchand, Loic; McNeill, Lorna H; Rybicki, Benjamin A; Schwartz, Ann G; Signorello, Lisa B; Spitz, Margaret R; Wiencke, John K; Wrensch, Margaret; Wu, Xifeng; Zanetti, Krista A; Ziegler, Regina G; Figueroa, Jonine D; Garcia-Closas, Montserrat; Malats, Nuria; Marenne, Gaelle; Prokunina-Olsson, Ludmila; Baris, Dalsu; Schwenn, Molly; Johnson, Alison; Landi, Maria Teresa; Goldin, Lynn; Consonni, Dario; Bertazzi, Pier Alberto; Rotunno, Melissa; Rajaraman, Preetha; Andersson, Ulrika; Beane Freeman, Laura E; Berg, Christine D; Buring, Julie E; Butler, Mary A; Carreon, Tania; Feychting, Maria; Ahlbom, Anders; Gaziano, J Michael; Giles, Graham G; Hallmans, Goran; Hankinson, Susan E; Hartge, Patricia; Henriksson, Roger; Inskip, Peter D; Johansen, Christoffer; Landgren, Annelie; McKean-Cowdin, Roberta; Michaud, Dominique S; Melin, Beatrice S; Peters, Ulrike; Ruder, Avima M; Sesso, Howard D; Severi, Gianluca; Shu, Xiao-Ou; Visvanathan, Kala; White, Emily; Wolk, Alicja; Zeleniuch-Jacquotte, Anne; Zheng, Wei; Silverman, Debra T; Kogevinas, Manolis; Gonzalez, Juan R; Villa, Olaya; Li, Donghui; Duell, Eric J; Risch, Harvey A; Olson, Sara H; Kooperberg, Charles; Wolpin, Brian M; Jiao, Li; Hassan, Manal; Wheeler, William; Arslan, Alan A; Bueno-de-Mesquita, H Bas; Fuchs, Charles S; Gallinger, Steven; Gross, Myron D; Holly, Elizabeth A; Klein, Alison P; LaCroix, Andrea; Mandelson, Margaret T; Petersen, Gloria; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Canzian, Federico; Chang, Kenneth; Cotterchio, Michelle; Giovannucci, Edward L; Goggins, Michael; Hoffman Bolton, Judith A; Jenab, Mazda; Khaw, Kay-Tee; Krogh, Vittorio; Kurtz, Robert C; McWilliams, Robert R; Mendelsohn, Julie B; Rabe, Kari G; Riboli, Elio; TjΓΈnneland, Anne; Tobias, Geoffrey S; Trichopoulos, Dimitrios; Elena, Joanne W; Yu, Herbert; Amundadottir, Laufey; Stolzenberg-Solomon, Rachael Z; Kraft, Peter; Schumacher, Fredrick; Stram, Daniel; Savage, Sharon A; Mirabello, Lisa; Andrulis, Irene L; Wunder, Jay S; PatiΓ±o GarcΓa, Ana; SierrasesΓΊmaga, Luis; Barkauskas, Donald A; Gorlick, Richard G; Purdue, Mark; Chow, Wong-Ho; Moore, Lee E; Schwartz, Kendra L; Davis, Faith G; Hsing, Ann W; Berndt, Sonja I; Black, Amanda; Wentzensen, Nicolas; Brinton, Louise A; Lissowska, Jolanta; Peplonska, Beata; McGlynn, Katherine A; Cook, Michael B; Graubard, Barry I; Kratz, Christian P; Greene, Mark H; Erickson, Ralph L; Hunter, David J; Thomas, Gilles; Hoover, Robert N; Real, Francisco X; Fraumeni, Joseph F; Caporaso, Neil E; Tucker, Margaret; Rothman, Nathaniel; PΓ©rez-Jurado, Luis A; Chanock, Stephen J
- Year
- 2012
- Journal
- Nature genetics
- PMID
- 22561519
- DOI
- 10.1038/ng.2270
- PMCID
- PMC3372921
In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 Γ 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 Γ 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
Characteristics of detectable clonal mosaic eventsDetectable clonal mosaic events plotted by proportion of abnormal cells (p) and Log R Ratio (LRR) for 681 events in 517 individuals.
LLM interpretation
This scatter plot displays 681 clonal mosaic events across 517 individuals, plotting the $\log_2$ intensity ratio (LRR) on the y-axis against the proportion of abnormal cells (p) on the x-axis. Data points are categorized into three groups: "gain" (blue), which shows a positive linear correlation between LRR and p; "loss" (red), which shows a negative linear correlation; and "neutral LOH" (green), which remains clustered near an LRR of 0 across all proportions. Linear regression lines are provided for the gain and loss groups to illustrate these trends.
Circular genomic plot of detectable clonal mosaic eventsGenomic location of detectable clonal mosaic events. Outer rings are the autosomes 1 to 22. Yellow region denotes events of copy neutral loss of heterozygosity. Blue region denotes copy gain events. Red region denotes copy loss events. Panel A includes events in cancer free controls. Panel B includes events in cancer cases.
LLM interpretation
This figure consists of two circular genomic plots (Circos plots) comparing detectable clonal mosaic events in cancer-free controls (Panel A) and cancer cases (Panel B) across autosomes 1 to 22. The plots use concentric rings to categorize events: yellow for copy neutral loss of heterozygosity, blue for copy gain, and red for copy loss. Panel B shows a higher density and frequency of events across all three categories compared to Panel A.
Frequency of detectable clonal mosaic events by age and cancer statusAnalysis excluded 1,000 individuals with unknown age at DNA collection. 95% confidence intervals are shown.
LLM interpretation
This grouped bar chart shows the frequency of detectable clonal mosaic events across eight age groups, comparing "Cancer Free" (blue) and "Cancer DX" (red) individuals. The frequency of these events increases with age for both groups, with the highest frequencies observed in the 75-79 age bracket. Error bars representing 95% confidence intervals are provided for each bar.
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| Title | Year | PMID |
|---|---|---|
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | 2012 | 22561516 |
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