Standard
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. / Machiela, Mitchell J; Zhou, Weiyin; Karlins, Eric; Sampson, Joshua N.; Freedman, Neal D; Yang, Qi; Hicks, Belynda D; Dagnall, Casey; Hautman, Christopher; Jacobs, Kevin B; Abnet, Christian C; Aldrich, Melinda C.; Amos, Christopher I; Amundadottir, Laufey T.; Arslan, Alan A.; Beane-Freeman, Laura E.; Berndt, Sonja I; Black, Amanda; Blot, William J; Bock, Cathryn H.; Bracci, Paige M.; Brinton, Louise A; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie E; Butler, Mary Ann; Canzian, Federico; Carreón, Tania; Chaffee, Kari G.; Chang, I-Shou; Chatterjee, Nilanjan; Chen, Chu; Chen, Constance; Chen, Kexin; Chung, Charles C; Cook, Linda S; Crous Bou, Marta; Cullen, Michael; Davis, Faith G; De Vivo, Immaculata; Ding, Ti; Doherty, Jennifer; Duell, Eric J; Epstein, Caroline G.; Fan, Jin Hu; Figueroa, Jonine D; Fraumeni, Joseph F.; Friedenreich, Christine M.; Fuchs, Charles S.; Gallinger, Steven; Gao, Yu Tang; Gapstur, Susan M; García-Closas, Montserrat; Gaudet, Mia; Gaziano, J Michael; Giles, Graham; Gillanders, Elizabeth M; Giovannucci, Edward L; Goldin, Lynn; Goldstein, Alisa M; Haiman, Christopher A; Hallmans, Goran; Hankinson, Susan E; Harris, Curtis C; Henriksson, Roger; Holly, Elizabeth A.; Hong, Yun Chul; Hoover, Robert N; Hsiung, Chao A; Hu, Nan; Hu, Zhuo-Wei; Hunter, David J; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Khaw, Kay-Tee; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Alison P.; Klein, Robert J; Koh, Woon-Puay; Kolonel, Laurence N; Kooperberg, Charles; Kraft, Peter; Krogh, Vittorio; Kurtz, Robert C.; LaCroix, Andrea Z; Lan, Qing; Landi, Maria Teresa; Marchand, Loic Le; Li, Donghui; Liang, Xiaolin; Liao, Linda M.; Lin, Dongxin; Liu, Jianjun; Lissowska, Jolanta; Lu, Lingeng; Magliocco, Anthony M; Malats, Núria; Matsuo, Keitaro; McNeill, Lorna H.; McWilliams, Robert R.; Melin, Beatrice S; Mirabello, Lisa; Moore, Lee; Olson, Sara H; Orlow, Irene; Park, Jae Yong; Patinõ-Garcia, Ana; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria M.; Pooler, Loreall C; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Purdue, Mark P.; Qiao, You Lin; Rajaraman, Preetha; Real, Francisco X.; Riboli, Elio; Risch, Harvey A; Rodríguez-Santiago, Benjamín; Ruder, Avima M; Savage, Sharon A; Schumacher, Fredrick; Schwartz, Ann G.; Schwartz, Kendra L.; Seow, Adeline; Wendy Setiawan, Veronica; Severi, Gianluca; Shen, Hongbing; Sheng, Xin; Shin, Min Ho; Shu, Xiao-Ou; Silverman, Debra T.; Spitz, Margaret R; Stevens, Victoria L; Stolzenberg-Solomon, Rachael; Stram, Daniel O; Tang, Ze Zhong; Taylor, Philip R.; Teras, Lauren R.; Tobias, Geoffrey S.; Van Den Berg, David; Visvanathan, Kala; Wacholder, Sholom; Wang, Jiu Cun; Wang, Zhaoming; Wentzensen, Nicolas; Wheeler, William; White, Emily; Wiencke, John K; Wolpin, Brian M.; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Xifeng; Wu, Yi Long; Wunder, Jay S.; Xia, Lucy; Yang, Hannah P; Yang, Pan Chyr; Yu, Kai; Zanetti, Krista A.; Zeleniuch-Jacquotte, Anne; Zheng, Wei; Zhou, Baosen; Ziegler, Regina G; Perez-Jurado, Luis A.; Caporaso, Neil E.; Rothman, Nathaniel; Tucker, Margaret A; Dean, Michael C.; Yeager, Meredith; Chanock, Stephen J.
I:
Nature Communications, Bind 7, 11843, 06.2016.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Machiela, MJ, Zhou, W, Karlins, E, Sampson, JN, Freedman, ND, Yang, Q, Hicks, BD, Dagnall, C, Hautman, C, Jacobs, KB, Abnet, CC, Aldrich, MC, Amos, CI, Amundadottir, LT, Arslan, AA, Beane-Freeman, LE, Berndt, SI, Black, A, Blot, WJ, Bock, CH, Bracci, PM, Brinton, LA, Bueno-de-Mesquita, HB, Burdett, L, Buring, JE, Butler, MA, Canzian, F, Carreón, T, Chaffee, KG, Chang, I-S, Chatterjee, N, Chen, C, Chen, C, Chen, K, Chung, CC, Cook, LS, Crous Bou, M, Cullen, M, Davis, FG, De Vivo, I, Ding, T, Doherty, J, Duell, EJ, Epstein, CG, Fan, JH, Figueroa, JD, Fraumeni, JF, Friedenreich, CM, Fuchs, CS, Gallinger, S, Gao, YT, Gapstur, SM, García-Closas, M, Gaudet, M, Gaziano, JM, Giles, G, Gillanders, EM, Giovannucci, EL, Goldin, L, Goldstein, AM, Haiman, CA, Hallmans, G, Hankinson, SE, Harris, CC, Henriksson, R, Holly, EA, Hong, YC, Hoover, RN, Hsiung, CA, Hu, N, Hu, Z-W, Hunter, DJ, Hutchinson, A, Jenab, M
, Johansen, C, Khaw, K-T, Kim, HN, Kim, YH, Kim, YT, Klein, AP, Klein, RJ, Koh, W-P, Kolonel, LN, Kooperberg, C, Kraft, P, Krogh, V, Kurtz, RC, LaCroix, AZ, Lan, Q, Landi, MT, Marchand, LL, Li, D, Liang, X, Liao, LM, Lin, D, Liu, J, Lissowska, J, Lu, L, Magliocco, AM, Malats, N, Matsuo, K, McNeill, LH, McWilliams, RR, Melin, BS, Mirabello, L, Moore, L, Olson, SH, Orlow, I, Park, JY, Patinõ-Garcia, A, Peplonska, B, Peters, U, Petersen, GM, Pooler, LC, Prescott, J, Prokunina-Olsson, L, Purdue, MP, Qiao, YL, Rajaraman, P, Real, FX, Riboli, E, Risch, HA, Rodríguez-Santiago, B, Ruder, AM, Savage, SA, Schumacher, F, Schwartz, AG, Schwartz, KL, Seow, A, Wendy Setiawan, V, Severi, G, Shen, H, Sheng, X, Shin, MH, Shu, X-O, Silverman, DT, Spitz, MR, Stevens, VL, Stolzenberg-Solomon, R, Stram, DO, Tang, ZZ, Taylor, PR, Teras, LR, Tobias, GS, Van Den Berg, D, Visvanathan, K, Wacholder, S, Wang, JC, Wang, Z, Wentzensen, N, Wheeler, W, White, E, Wiencke, JK, Wolpin, BM, Wong, MP, Wu, C, Wu, T, Wu, X, Wu, YL, Wunder, JS, Xia, L, Yang, HP, Yang, PC, Yu, K, Zanetti, KA, Zeleniuch-Jacquotte, A, Zheng, W, Zhou, B, Ziegler, RG, Perez-Jurado, LA, Caporaso, NE, Rothman, N, Tucker, MA, Dean, MC, Yeager, M & Chanock, SJ 2016, '
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome',
Nature Communications, bind 7, 11843.
https://doi.org/10.1038/ncomms11843APA
Machiela, M. J., Zhou, W., Karlins, E., Sampson, J. N., Freedman, N. D., Yang, Q., Hicks, B. D., Dagnall, C., Hautman, C., Jacobs, K. B., Abnet, C. C., Aldrich, M. C., Amos, C. I., Amundadottir, L. T., Arslan, A. A., Beane-Freeman, L. E., Berndt, S. I., Black, A., Blot, W. J., ... Chanock, S. J. (2016).
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Nature Communications,
7, [11843].
https://doi.org/10.1038/ncomms11843Vancouver
Machiela MJ, Zhou W, Karlins E, Sampson JN, Freedman ND, Yang Q o.a.
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Nature Communications. 2016 jun.;7. 11843.
https://doi.org/10.1038/ncomms11843Author
Machiela, Mitchell J ; Zhou, Weiyin ; Karlins, Eric ; Sampson, Joshua N. ; Freedman, Neal D ; Yang, Qi ; Hicks, Belynda D ; Dagnall, Casey ; Hautman, Christopher ; Jacobs, Kevin B ; Abnet, Christian C ; Aldrich, Melinda C. ; Amos, Christopher I ; Amundadottir, Laufey T. ; Arslan, Alan A. ; Beane-Freeman, Laura E. ; Berndt, Sonja I ; Black, Amanda ; Blot, William J ; Bock, Cathryn H. ; Bracci, Paige M. ; Brinton, Louise A ; Bueno-de-Mesquita, H Bas ; Burdett, Laurie ; Buring, Julie E ; Butler, Mary Ann ; Canzian, Federico ; Carreón, Tania ; Chaffee, Kari G. ; Chang, I-Shou ; Chatterjee, Nilanjan ; Chen, Chu ; Chen, Constance ; Chen, Kexin ; Chung, Charles C ; Cook, Linda S ; Crous Bou, Marta ; Cullen, Michael ; Davis, Faith G ; De Vivo, Immaculata ; Ding, Ti ; Doherty, Jennifer ; Duell, Eric J ; Epstein, Caroline G. ; Fan, Jin Hu ; Figueroa, Jonine D ; Fraumeni, Joseph F. ; Friedenreich, Christine M. ; Fuchs, Charles S. ; Gallinger, Steven ; Gao, Yu Tang ; Gapstur, Susan M ; García-Closas, Montserrat ; Gaudet, Mia ; Gaziano, J Michael ; Giles, Graham ; Gillanders, Elizabeth M ; Giovannucci, Edward L ; Goldin, Lynn ; Goldstein, Alisa M ; Haiman, Christopher A ; Hallmans, Goran ; Hankinson, Susan E ; Harris, Curtis C ; Henriksson, Roger ; Holly, Elizabeth A. ; Hong, Yun Chul ; Hoover, Robert N ; Hsiung, Chao A ; Hu, Nan ; Hu, Zhuo-Wei ; Hunter, David J ; Hutchinson, Amy ; Jenab, Mazda ; Johansen, Christoffer ; Khaw, Kay-Tee ; Kim, Hee Nam ; Kim, Yeul Hong ; Kim, Young Tae ; Klein, Alison P. ; Klein, Robert J ; Koh, Woon-Puay ; Kolonel, Laurence N ; Kooperberg, Charles ; Kraft, Peter ; Krogh, Vittorio ; Kurtz, Robert C. ; LaCroix, Andrea Z ; Lan, Qing ; Landi, Maria Teresa ; Marchand, Loic Le ; Li, Donghui ; Liang, Xiaolin ; Liao, Linda M. ; Lin, Dongxin ; Liu, Jianjun ; Lissowska, Jolanta ; Lu, Lingeng ; Magliocco, Anthony M ; Malats, Núria ; Matsuo, Keitaro ; McNeill, Lorna H. ; McWilliams, Robert R. ; Melin, Beatrice S ; Mirabello, Lisa ; Moore, Lee ; Olson, Sara H ; Orlow, Irene ; Park, Jae Yong ; Patinõ-Garcia, Ana ; Peplonska, Beata ; Peters, Ulrike ; Petersen, Gloria M. ; Pooler, Loreall C ; Prescott, Jennifer ; Prokunina-Olsson, Ludmila ; Purdue, Mark P. ; Qiao, You Lin ; Rajaraman, Preetha ; Real, Francisco X. ; Riboli, Elio ; Risch, Harvey A ; Rodríguez-Santiago, Benjamín ; Ruder, Avima M ; Savage, Sharon A ; Schumacher, Fredrick ; Schwartz, Ann G. ; Schwartz, Kendra L. ; Seow, Adeline ; Wendy Setiawan, Veronica ; Severi, Gianluca ; Shen, Hongbing ; Sheng, Xin ; Shin, Min Ho ; Shu, Xiao-Ou ; Silverman, Debra T. ; Spitz, Margaret R ; Stevens, Victoria L ; Stolzenberg-Solomon, Rachael ; Stram, Daniel O ; Tang, Ze Zhong ; Taylor, Philip R. ; Teras, Lauren R. ; Tobias, Geoffrey S. ; Van Den Berg, David ; Visvanathan, Kala ; Wacholder, Sholom ; Wang, Jiu Cun ; Wang, Zhaoming ; Wentzensen, Nicolas ; Wheeler, William ; White, Emily ; Wiencke, John K ; Wolpin, Brian M. ; Wong, Maria Pik ; Wu, Chen ; Wu, Tangchun ; Wu, Xifeng ; Wu, Yi Long ; Wunder, Jay S. ; Xia, Lucy ; Yang, Hannah P ; Yang, Pan Chyr ; Yu, Kai ; Zanetti, Krista A. ; Zeleniuch-Jacquotte, Anne ; Zheng, Wei ; Zhou, Baosen ; Ziegler, Regina G ; Perez-Jurado, Luis A. ; Caporaso, Neil E. ; Rothman, Nathaniel ; Tucker, Margaret A ; Dean, Michael C. ; Yeager, Meredith ; Chanock, Stephen J. / Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. I: Nature Communications. 2016 ; Bind 7.
Bibtex
@article{021637babf4842018223d4f51bba8814,
title = "Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome",
abstract = "To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.",
author = "Machiela, {Mitchell J} and Weiyin Zhou and Eric Karlins and Sampson, {Joshua N.} and Freedman, {Neal D} and Qi Yang and Hicks, {Belynda D} and Casey Dagnall and Christopher Hautman and Jacobs, {Kevin B} and Abnet, {Christian C} and Aldrich, {Melinda C.} and Amos, {Christopher I} and Amundadottir, {Laufey T.} and Arslan, {Alan A.} and Beane-Freeman, {Laura E.} and Berndt, {Sonja I} and Amanda Black and Blot, {William J} and Bock, {Cathryn H.} and Bracci, {Paige M.} and Brinton, {Louise A} and Bueno-de-Mesquita, {H Bas} and Laurie Burdett and Buring, {Julie E} and Butler, {Mary Ann} and Federico Canzian and Tania Carre{\'o}n and Chaffee, {Kari G.} and I-Shou Chang and Nilanjan Chatterjee and Chu Chen and Constance Chen and Kexin Chen and Chung, {Charles C} and Cook, {Linda S} and {Crous Bou}, Marta and Michael Cullen and Davis, {Faith G} and {De Vivo}, Immaculata and Ti Ding and Jennifer Doherty and Duell, {Eric J} and Epstein, {Caroline G.} and Fan, {Jin Hu} and Figueroa, {Jonine D} and Fraumeni, {Joseph F.} and Friedenreich, {Christine M.} and Fuchs, {Charles S.} and Steven Gallinger and Gao, {Yu Tang} and Gapstur, {Susan M} and Montserrat Garc{\'i}a-Closas and Mia Gaudet and Gaziano, {J Michael} and Graham Giles and Gillanders, {Elizabeth M} and Giovannucci, {Edward L} and Lynn Goldin and Goldstein, {Alisa M} and Haiman, {Christopher A} and Goran Hallmans and Hankinson, {Susan E} and Harris, {Curtis C} and Roger Henriksson and Holly, {Elizabeth A.} and Hong, {Yun Chul} and Hoover, {Robert N} and Hsiung, {Chao A} and Nan Hu and Zhuo-Wei Hu and Hunter, {David J} and Amy Hutchinson and Mazda Jenab and Christoffer Johansen and Kay-Tee Khaw and Kim, {Hee Nam} and Kim, {Yeul Hong} and Kim, {Young Tae} and Klein, {Alison P.} and Klein, {Robert J} and Woon-Puay Koh and Kolonel, {Laurence N} and Charles Kooperberg and Peter Kraft and Vittorio Krogh and Kurtz, {Robert C.} and LaCroix, {Andrea Z} and Qing Lan and Landi, {Maria Teresa} and Marchand, {Loic Le} and Donghui Li and Xiaolin Liang and Liao, {Linda M.} and Dongxin Lin and Jianjun Liu and Jolanta Lissowska and Lingeng Lu and Magliocco, {Anthony M} and N{\'u}ria Malats and Keitaro Matsuo and McNeill, {Lorna H.} and McWilliams, {Robert R.} and Melin, {Beatrice S} and Lisa Mirabello and Lee Moore and Olson, {Sara H} and Irene Orlow and Park, {Jae Yong} and Ana Patin{\~o}-Garcia and Beata Peplonska and Ulrike Peters and Petersen, {Gloria M.} and Pooler, {Loreall C} and Jennifer Prescott and Ludmila Prokunina-Olsson and Purdue, {Mark P.} and Qiao, {You Lin} and Preetha Rajaraman and Real, {Francisco X.} and Elio Riboli and Risch, {Harvey A} and Benjam{\'i}n Rodr{\'i}guez-Santiago and Ruder, {Avima M} and Savage, {Sharon A} and Fredrick Schumacher and Schwartz, {Ann G.} and Schwartz, {Kendra L.} and Adeline Seow and {Wendy Setiawan}, Veronica and Gianluca Severi and Hongbing Shen and Xin Sheng and Shin, {Min Ho} and Xiao-Ou Shu and Silverman, {Debra T.} and Spitz, {Margaret R} and Stevens, {Victoria L} and Rachael Stolzenberg-Solomon and Stram, {Daniel O} and Tang, {Ze Zhong} and Taylor, {Philip R.} and Teras, {Lauren R.} and Tobias, {Geoffrey S.} and {Van Den Berg}, David and Kala Visvanathan and Sholom Wacholder and Wang, {Jiu Cun} and Zhaoming Wang and Nicolas Wentzensen and William Wheeler and Emily White and Wiencke, {John K} and Wolpin, {Brian M.} and Wong, {Maria Pik} and Chen Wu and Tangchun Wu and Xifeng Wu and Wu, {Yi Long} and Wunder, {Jay S.} and Lucy Xia and Yang, {Hannah P} and Yang, {Pan Chyr} and Kai Yu and Zanetti, {Krista A.} and Anne Zeleniuch-Jacquotte and Wei Zheng and Baosen Zhou and Ziegler, {Regina G} and Perez-Jurado, {Luis A.} and Caporaso, {Neil E.} and Nathaniel Rothman and Tucker, {Margaret A} and Dean, {Michael C.} and Meredith Yeager and Chanock, {Stephen J}",
year = "2016",
month = jun,
doi = "10.1038/ncomms11843",
language = "English",
volume = "7",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
AU - Machiela, Mitchell J
AU - Zhou, Weiyin
AU - Karlins, Eric
AU - Sampson, Joshua N.
AU - Freedman, Neal D
AU - Yang, Qi
AU - Hicks, Belynda D
AU - Dagnall, Casey
AU - Hautman, Christopher
AU - Jacobs, Kevin B
AU - Abnet, Christian C
AU - Aldrich, Melinda C.
AU - Amos, Christopher I
AU - Amundadottir, Laufey T.
AU - Arslan, Alan A.
AU - Beane-Freeman, Laura E.
AU - Berndt, Sonja I
AU - Black, Amanda
AU - Blot, William J
AU - Bock, Cathryn H.
AU - Bracci, Paige M.
AU - Brinton, Louise A
AU - Bueno-de-Mesquita, H Bas
AU - Burdett, Laurie
AU - Buring, Julie E
AU - Butler, Mary Ann
AU - Canzian, Federico
AU - Carreón, Tania
AU - Chaffee, Kari G.
AU - Chang, I-Shou
AU - Chatterjee, Nilanjan
AU - Chen, Chu
AU - Chen, Constance
AU - Chen, Kexin
AU - Chung, Charles C
AU - Cook, Linda S
AU - Crous Bou, Marta
AU - Cullen, Michael
AU - Davis, Faith G
AU - De Vivo, Immaculata
AU - Ding, Ti
AU - Doherty, Jennifer
AU - Duell, Eric J
AU - Epstein, Caroline G.
AU - Fan, Jin Hu
AU - Figueroa, Jonine D
AU - Fraumeni, Joseph F.
AU - Friedenreich, Christine M.
AU - Fuchs, Charles S.
AU - Gallinger, Steven
AU - Gao, Yu Tang
AU - Gapstur, Susan M
AU - García-Closas, Montserrat
AU - Gaudet, Mia
AU - Gaziano, J Michael
AU - Giles, Graham
AU - Gillanders, Elizabeth M
AU - Giovannucci, Edward L
AU - Goldin, Lynn
AU - Goldstein, Alisa M
AU - Haiman, Christopher A
AU - Hallmans, Goran
AU - Hankinson, Susan E
AU - Harris, Curtis C
AU - Henriksson, Roger
AU - Holly, Elizabeth A.
AU - Hong, Yun Chul
AU - Hoover, Robert N
AU - Hsiung, Chao A
AU - Hu, Nan
AU - Hu, Zhuo-Wei
AU - Hunter, David J
AU - Hutchinson, Amy
AU - Jenab, Mazda
AU - Johansen, Christoffer
AU - Khaw, Kay-Tee
AU - Kim, Hee Nam
AU - Kim, Yeul Hong
AU - Kim, Young Tae
AU - Klein, Alison P.
AU - Klein, Robert J
AU - Koh, Woon-Puay
AU - Kolonel, Laurence N
AU - Kooperberg, Charles
AU - Kraft, Peter
AU - Krogh, Vittorio
AU - Kurtz, Robert C.
AU - LaCroix, Andrea Z
AU - Lan, Qing
AU - Landi, Maria Teresa
AU - Marchand, Loic Le
AU - Li, Donghui
AU - Liang, Xiaolin
AU - Liao, Linda M.
AU - Lin, Dongxin
AU - Liu, Jianjun
AU - Lissowska, Jolanta
AU - Lu, Lingeng
AU - Magliocco, Anthony M
AU - Malats, Núria
AU - Matsuo, Keitaro
AU - McNeill, Lorna H.
AU - McWilliams, Robert R.
AU - Melin, Beatrice S
AU - Mirabello, Lisa
AU - Moore, Lee
AU - Olson, Sara H
AU - Orlow, Irene
AU - Park, Jae Yong
AU - Patinõ-Garcia, Ana
AU - Peplonska, Beata
AU - Peters, Ulrike
AU - Petersen, Gloria M.
AU - Pooler, Loreall C
AU - Prescott, Jennifer
AU - Prokunina-Olsson, Ludmila
AU - Purdue, Mark P.
AU - Qiao, You Lin
AU - Rajaraman, Preetha
AU - Real, Francisco X.
AU - Riboli, Elio
AU - Risch, Harvey A
AU - Rodríguez-Santiago, Benjamín
AU - Ruder, Avima M
AU - Savage, Sharon A
AU - Schumacher, Fredrick
AU - Schwartz, Ann G.
AU - Schwartz, Kendra L.
AU - Seow, Adeline
AU - Wendy Setiawan, Veronica
AU - Severi, Gianluca
AU - Shen, Hongbing
AU - Sheng, Xin
AU - Shin, Min Ho
AU - Shu, Xiao-Ou
AU - Silverman, Debra T.
AU - Spitz, Margaret R
AU - Stevens, Victoria L
AU - Stolzenberg-Solomon, Rachael
AU - Stram, Daniel O
AU - Tang, Ze Zhong
AU - Taylor, Philip R.
AU - Teras, Lauren R.
AU - Tobias, Geoffrey S.
AU - Van Den Berg, David
AU - Visvanathan, Kala
AU - Wacholder, Sholom
AU - Wang, Jiu Cun
AU - Wang, Zhaoming
AU - Wentzensen, Nicolas
AU - Wheeler, William
AU - White, Emily
AU - Wiencke, John K
AU - Wolpin, Brian M.
AU - Wong, Maria Pik
AU - Wu, Chen
AU - Wu, Tangchun
AU - Wu, Xifeng
AU - Wu, Yi Long
AU - Wunder, Jay S.
AU - Xia, Lucy
AU - Yang, Hannah P
AU - Yang, Pan Chyr
AU - Yu, Kai
AU - Zanetti, Krista A.
AU - Zeleniuch-Jacquotte, Anne
AU - Zheng, Wei
AU - Zhou, Baosen
AU - Ziegler, Regina G
AU - Perez-Jurado, Luis A.
AU - Caporaso, Neil E.
AU - Rothman, Nathaniel
AU - Tucker, Margaret A
AU - Dean, Michael C.
AU - Yeager, Meredith
AU - Chanock, Stephen J
PY - 2016/6
Y1 - 2016/6
N2 - To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.
AB - To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.
U2 - 10.1038/ncomms11843
DO - 10.1038/ncomms11843
M3 - Journal article
C2 - 27291797
AN - SCOPUS:84974736225
VL - 7
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 11843
ER -
