Abstract
A comprehensive understanding of the molecular vulnerabilities of every type of cancer will provide a powerful roadmap to guide therapeutic approaches. Efforts such as The Cancer Genome Atlas Project will identify genes with aberrant copy number, sequence, or expression in various cancer types, providing a survey of the genes that may have a causal role in cancer. A complementary approach is to perform systematic loss-of-function studies to identify essential genes in particular cancer cell types. We have begun a systematic effort, termed Project Achilles, aimed at identifying genetic vulnerabilities across large numbers of cancer cell lines. Here, we report the assessment of the essentiality of 11,194 genes in 102 human cancer cell lines. We show that the integration of these functional data with information derived from surveying cancer genomes pinpoints known and previously undescribed lineage-specific dependencies across a wide spectrum of cancers. In particular, we found 54 genes that are specifically essential for the proliferation and viability of ovarian cancer cells and also amplified in primary tumors or differentially overexpressed in ovarian cancer cell lines. One such gene, PAX8, is focally amplified in 16% of high-grade serous ovarian cancers and expressed at higher levels in ovarian tumors. Suppression of PAX8 selectively induces apoptotic cell death of ovarian cancer cells. These results identify PAX8 as an ovarian lineage-specific dependency. More generally, these observations demonstrate that the integration of genome-scale functional and structural studies provides an efficient path to identify dependencies of specific cancer types on particular genes and pathways.
MeSH Terms
Alcohol Oxidoreductases
Base Sequence
Cell Line, Tumor
Cell Proliferation
Cell Survival/genetics
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Oncogenes
Ovarian Neoplasms/genetics,pathology
PAX8 Transcription Factor
Paired Box Transcription Factors/genetics
RNA, Neoplasm/genetics
RNA, Small Interfering/genetics
Chemicals
PAX8 Transcription Factor
PAX8 protein, human
Paired Box Transcription Factors
RNA, Neoplasm
RNA, Small Interfering
Alcohol Oxidoreductases
lactate-malate transhydrogenase
Authors & Affiliations
30 authors, click to expand affiliations / ORCID
Cheung Hiu Wing
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Cowley Glenn S
Weir Barbara A
Boehm Jesse S
Rusin Scott
Scott Justine A
East Alexandra
Ali Levi D
Lizotte Patrick H
Wong Terence C
Jiang Guozhi
Hsiao Jessica
Mermel Craig H
Getz Gad
Barretina Jordi
Gopal Shuba
Tamayo Pablo
Gould Joshua
Tsherniak Aviad
Stransky Nicolas
Luo Biao
Ren Yin
Drapkin Ronny
Bhatia Sangeeta N
Mesirov Jill P
Garraway Levi A
Meyerson Matthew
Lander Eric S
Root David E
Hahn William C
References (28)
28 references, click to expand
-
Inhibition of mutated, activated BRAF in metastatic melanoma.
N Engl J Med. 2010 Aug 26;363(9):809-19
PMID: 20818844
-
c-Jun N-terminal kinase is activated in non-small-cell lung cancer and promotes neoplastic transformation in human bronchial epithelial cells.
Oncogene. 2007 Apr 19;26(18):2658-66
PMID: 17057737
-
Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy.
Endocrinology. 2007 Feb;148(2):719-25
PMID: 17082261
-
Integrated genomic analyses of ovarian carcinoma.
Nature. 2011 Jun 29;474(7353):609-15
PMID: 21720365
-
Sox9 coordinates a transcriptional network in pancreatic progenitor cells.
Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10500-5
PMID: 17563382
-
MYB function in normal and cancer cells.
Nat Rev Cancer. 2008 Jul;8(7):523-34
PMID: 18574464
-
The biology of ovarian cancer: new opportunities for translation.
Nat Rev Cancer. 2009 Jun;9(6):415-28
PMID: 19461667
-
High-throughput oncogene mutation profiling in human cancer.
Nat Genet. 2007 Mar;39(3):347-51
PMID: 17293865
-
Predicting relapse in patients with medulloblastoma by integrating evidence from clinical and genomic features.
J Clin Oncol. 2011 Apr 10;29(11):1415-23
PMID: 21357789
-
Ovarian carcinoma subtypes are different diseases: implications for biomarker studies.
PLoS Med. 2008 Dec 2;5(12):e232
PMID: 19053170
-
Follicular cells of the thyroid gland require Pax8 gene function.
Nat Genet. 1998 May;19(1):87-90
PMID: 9590297
-
The Catalogue of Somatic Mutations in Cancer (COSMIC).
Curr Protoc Hum Genet. 2008 Apr;Chapter 10:Unit 10.11
PMID: 18428421
-
Highly parallel identification of essential genes in cancer cells.
Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20380-5
PMID: 19091943
-
Emerging roles for PAX8 in ovarian cancer and endosalpingeal development.
Gynecol Oncol. 2007 Feb;104(2):331-7
PMID: 17064757
-
Pax genes in embryogenesis and oncogenesis.
J Cell Mol Med. 2008 Dec;12(6A):2281-94
PMID: 18627422
-
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
Am J Hum Genet. 2004 May;74(5):1043-50
PMID: 15042511
-
Serous tubal intraepithelial carcinoma: its potential role in primary peritoneal serous carcinoma and serous cancer prevention.
J Clin Oncol. 2008 Sep 1;26(25):4160-5
PMID: 18757330
-
Synthetic lethality: a framework for the development of wiser cancer therapeutics.
Genome Med. 2009 Oct 27;1(10):99
PMID: 19863774
-
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas.
Nat Genet. 2009 Nov;41(11):1238-42
PMID: 19801978
-
Elevated levels of IGF-1 receptor convey invasive and metastatic capability in a mouse model of pancreatic islet tumorigenesis.
Cancer Cell. 2002 May;1(4):339-53
PMID: 12086849
-
A genetically defined model for human ovarian cancer.
Cancer Res. 2004 Mar 1;64(5):1655-63
PMID: 14996724
-
Amplicon-dependent CCNE1 expression is critical for clonogenic survival after cisplatin treatment and is correlated with 20q11 gain in ovarian cancer.
PLoS One. 2010 Nov 12;5(11):e15498
PMID: 21103391
-
Regulation of growth factor signaling by FRS2 family docking/scaffold adaptor proteins.
Cancer Sci. 2008 Jul;99(7):1319-25
PMID: 18452557
-
Protein kinase C-epsilon regulates the apoptosis and survival of glioma cells.
Cancer Res. 2005 Aug 15;65(16):7301-9
PMID: 16103081
-
Characterizing the cancer genome in lung adenocarcinoma.
Nature. 2007 Dec 6;450(7171):893-8
PMID: 17982442
-
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma.
Nature. 2005 Jul 7;436(7047):117-22
PMID: 16001072
-
Raptor and mTOR: subunits of a nutrient-sensitive complex.
Curr Top Microbiol Immunol. 2004;279:259-70
PMID: 14560962
-
PIK3CA mutation, but not PTEN loss of function, determines the sensitivity of breast cancer cells to mTOR inhibitory drugs.
Oncogene. 2011 Jul 21;30(29):3222-33
PMID: 21358673