Somatic mutation of CDKN1B in small intestine neuroendocrine tumors

被引：250

作者：

Francis, Joshua M. ^{[1
,2
]}

Kiezun, Adam ^{[1
]}

Ramos, Alex H. ^{[1
,2
]}

Serra, Stefano ^{[3
]}

Pedamallu, Chandra Sekhar ^{[1
,2
]}

Qian, Zhi Rong ^{[2
]}

Banck, Michaela S. ^{[4
,5
]}

Kanwar, Rahul ^{[4
]}

Kulkarni, Amit A. ^{[4
]}

Karpathakis, Anna ^{[6
,7
]}

Manzo, Veronica ^{[2
]}

Contractor, Tanupriya ^{[8
]}

Philips, Juliet ^{[2
]}

Nickerson, Elizabeth ^{[1
]}

Nam Pho ^{[1
]}

Hooshmand, Susanne M. ^{[2
]}

Brais, Lauren K. ^{[2
]}

Lawrence, Michael S. ^{[1
]}

Pugh, Trevor ^{[1
]}

McKenna, Aaron ^{[1
]}

Sivachenko, Andrey ^{[1
]}

Cibulskis, Kristian ^{[1
]}

Carter, Scott L. ^{[1
]}

Ojesina, Akinyemi I. ^{[1
,2
]}

Freeman, Samuel ^{[2
]}

Jones, Robert T. ^{[9
]}

Voet, Douglas ^{[1
]}

Saksena, Gordon ^{[1
]}

Auclair, Daniel ^{[1
]}

Onofrio, Robert ^{[1
]}

Shefler, Erica ^{[1
]}

Sougnez, Carrie ^{[1
]}

Grimsby, Jonna ^{[1
]}

Green, Lisa ^{[1
]}

Lennon, Niall ^{[1
]}

Meyer, Tim ^{[6
,7
]}

Caplin, Martyn ^{[7
]}

Chung, Daniel C. ^{[10
,11
]}

Beutler, Andreas S. ^{[4
,5
]}

Ogino, Shuji ^{[2
,12
,13
,14
]}

Thirlwell, Christina ^{[6
,7
]}

Shivdasani, Ramesh ^{[2
]}

Asa, Sylvia L. ^{[3
,15
]}

Harris, Chris R. ^{[8
,16
,17
]}

Getz, Gad ^{[1
]}

Kulke, Matthew ^{[2
]}

Meyerson, Matthew ^{[1
,2
,9
]}

机构：

[1] Broad Inst, Cambridge, MA USA

[2] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[3] Univ Hlth Network, Dept Pathol, Toronto, ON, Canada

[4] Mayo Clin, Div Med Oncol, Rochester, MN USA

[5] Mayo Clin, Ctr Canc, Rochester, MN USA

[6] UCL, Inst Canc, London, England

[7] Royal Free Hosp, NET Unit, London NW3 2QG, England

[8] Raymond & Beverly Sackler Fdn, New Brunswick, NJ USA

[9] Dana Farber Canc Inst, Ctr Canc Genome Discovery, Boston, MA 02115 USA

[10] Massachusetts Gen Hosp, Gastrointestinal Unit, Boston, MA 02114 USA

[11] Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA

[12] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[13] Harvard Univ, Sch Med, Boston, MA USA

[14] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[15] Univ Toronto, Ontario Canc Inst, Toronto, ON M5S 1A1, Canada

[16] Univ Med & Dent New Jersey, Canc Inst New Jersey, New Brunswick, NJ USA

[17] Univ Med & Dent New Jersey, Dept Pediat, New Brunswick, NJ USA

来源：

NATURE GENETICS | 2013年 / 45卷 / 12期

关键词：

DEPENDENT KINASE INHIBITOR; P27(KIP1) GENE; BREAST-CANCER; FREQUENT LOSS; MICE LACKING; SUPPRESSOR; GROWTH; HAPLOINSUFFICIENCY; HETEROZYGOSITY; ADENOCARCINOMA;

D O I：

10.1038/ng.2821

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The diagnosed incidence of small intestine neuroendocrine tumors (SI-NETs) is increasing, and the underlying genomic mechanisms have not yet been defined. Using exome- and genome-sequence analysis of SI-NETs, we identified recurrent somatic mutations and deletions in CDKN1B, the cyclin-dependent kinase inhibitor gene, which encodes p27. We observed frameshift mutations of CDKN1B in 14 of 180 SI-NETs, and we detected hemizygous deletions encompassing CDKN1B in 7 out of 50 SI-NETs, nominating p27 as a tumor suppressor and implicating cell cycle dysregulation in the etiology of SI-NETs.

引用

页码：1483 / U110

页数：5

共 52 条

[1] The genomic landscape of small intestine neuroendocrine tumors
Banck, Michaela S.
Kanwar, Rahul
Kulkarni, Amit A.
Boora, Ganesh K.
Metge, Franziska
Kipp, Benjamin R.
Zhang, Lizhi
Thorland, Erik C.
Minn, Kay T.
Tentu, Ramesh
Eckloff, Bruce W.
Wieben, Eric D.
Wu, Yanhong
Cunningham, Julie M.
Nagorney, David M.
Gilbert, Judith A.
Ames, Matthew M.
Beutler, Andreas S.
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (06) : 2502 - 2508
[2] Sequence analysis of mutations and translocations across breast cancer subtypes
Banerji, Shantanu
Cibulskis, Kristian
Rangel-Escareno, Claudia
Brown, Kristin K.
Carter, Scott L.
Frederick, Abbie M.
Lawrence, Michael S.
Sivachenko, Andrey Y.
Sougnez, Carrie
Zou, Lihua
Cortes, Maria L.
Fernandez-Lopez, Juan C.
Peng, Shouyong
Ardlie, Kristin G.
Auclair, Daniel
Bautista-Pina, Veronica
Duke, Fujiko
Francis, Joshua
Jung, Joonil
Maffuz-Aziz, Antonio
Onofrio, Robert C.
Parkin, Melissa
Pho, Nam H.
Quintanar-Jurado, Valeria
Ramos, Alex H.
Rebollar-Vega, Rosa
Rodriguez-Cuevas, Sergio
Romero-Cordoba, Sandra L.
Schumacher, Steven E.
Stransky, Nicolas
Thompson, Kristin M.
Uribe-Figueroa, Laura
Baselga, Jose
Beroukhim, Rameen
Polyak, Kornelia
Sgroi, Dennis C.
Richardson, Andrea L.
Jimenez-Sanchez, Gerardo
Lander, Eric S.
Gabriel, Stacey B.
Garraway, Levi A.
Golub, Todd R.
Melendez-Zajgla, Jorge
Toker, Alex
Getz, Gad
Hidalgo-Miranda, Alfredo
Meyerson, Matthew
[J]. NATURE, 2012, 486 (7403) : 405 - 409
[3] Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer
Barbieri, Christopher E.
Baca, Sylvan C.
Lawrence, Michael S.
Demichelis, Francesca
Blattner, Mirjam
Theurillat, Jean-Philippe
White, Thomas A.
Stojanov, Petar
Van Allen, Eliezer
Stransky, Nicolas
Nickerson, Elizabeth
Chae, Sung-Suk
Boysen, Gunther
Auclair, Daniel
Onofrio, Robert C.
Park, Kyung
Kitabayashi, Naoki
MacDonald, Theresa Y.
Sheikh, Karen
Vuong, Terry
Guiducci, Candace
Cibulskis, Kristian
Sivachenko, Andrey
Carter, Scott L.
Saksena, Gordon
Voet, Douglas
Hussain, Wasay M.
Ramos, Alex H.
Winckler, Wendy
Redman, Michelle C.
Ardlie, Kristin
Tewari, Ashutosh K.
Mosquera, Juan Miguel
Rupp, Niels
Wild, Peter J.
Moch, Holger
Morrissey, Colm
Nelson, Peter S.
Kantoff, Philip W.
Gabriel, Stacey B.
Golub, Todd R.
Meyerson, Matthew
Lander, Eric S.
Getz, Gad
Rubin, Mark A.
Garraway, Levi A.
[J]. NATURE GENETICS, 2012, 44 (06) : 685 - U107
[4] High-resolution mapping of copy-number alterations with massively parallel sequencing
Chiang, Derek Y.
Getz, Gad
Jaffe, David B.
O'Kelly, Michael J. T.
Zhao, Xiaojun
Carter, Scott L.
Russ, Carsten
Nusbaum, Chad
Meyerson, Matthew
Lander, Eric S.
[J]. NATURE METHODS, 2009, 6 (01) : 99 - 103
[5] Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Cibulskis, Kristian
Lawrence, Michael S.
Carter, Scott L.
Sivachenko, Andrey
Jaffe, David
Sougnez, Carrie
Gabriel, Stacey
Meyerson, Matthew
Lander, Eric S.
Getz, Gad
[J]. NATURE BIOTECHNOLOGY, 2013, 31 (03) : 213 - 219
[6] Common Pathogenetic Mechanism Involving Human Chromosome 18 in Familial and Sporadic Ileal Carcinoid Tumors
Cunningham, Janet L.
de Stahl, Teresita Diaz
Sjoblom, Tobias
Westin, Gunnar
Dumanski, Jan P.
Janson, Eva T.
[J]. GENES CHROMOSOMES & CANCER, 2011, 50 (02) : 82 - 94
[7] Discordances in Estrogen Receptor Status, Progesterone Receptor Status, and HER2 Status Between Primary Breast Cancer and Metastasis
Curtit, Elsa
Nerich, Virginie
Mansi, Laura
Chaigneau, Loic
Cals, Laurent
Villanueva, Cristian
Bazan, Fernando
Montcuquet, Philippe
Meneveau, Nathalie
Perrin, Sophie
Algros, Marie-Paule
Pivot, Xavier
[J]. ONCOLOGIST, 2013, 18 (06) : 667 - 674
[8] A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, Mark A.
Banks, Eric
Poplin, Ryan
Garimella, Kiran V.
Maguire, Jared R.
Hartl, Christopher
Philippakis, Anthony A.
del Angel, Guillermo
Rivas, Manuel A.
Hanna, Matt
McKenna, Aaron
Fennell, Tim J.
Kernytsky, Andrew M.
Sivachenko, Andrey Y.
Cibulskis, Kristian
Gabriel, Stacey B.
Altshuler, David
Daly, Mark J.
[J]. NATURE GENETICS, 2011, 43 (05) : 491 - +
[9] A syndrome of multiorgan hyperplasia with features of gigantism, tumorigenesis, and female sterility in p27(Kip1)-deficient mice
Fero, ML
Rivkin, M
Tasch, M
Porter, P
Carow, CE
Firpo, E
Polyak, K
Tsai, LH
Broudy, V
Perlmutter, RM
Kaushansky, K
Roberts, JM
[J]. CELL, 1996, 85 (05) : 733 - 744
[10] The murine gene p27Kip1 is haplo-insufficient for tumour suppression
Fero, ML
Randel, E
Gurley, KE
Roberts, JM
Kemp, CJ
[J]. NATURE, 1998, 396 (6707) : 177 - 180

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