Somatic mutation of CDKN1B in small intestine neuroendocrine tumors

被引：255

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

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