Integrated genomic characterization of papillary thyroid carcinoma. Cell, 159(3):676-90, 2014. 1097-4172 Cancer Genome Atlas Research Network P30CA16672/CA/NCI NIH HHS/United States UL1 TR000005/TR/NCATS NIH HHS/United States P30 CA016672/CA/NCI NIH HHS/United States 5U24CA143843/CA/NCI NIH HHS/United States U24 CA143882/CA/NCI NIH HHS/United States U54 HG003067/HG/NHGRI NIH HHS/United States U54HG003273/HG/NHGRI NIH HHS/United States U24 CA143835/CA/NCI NIH HHS/United States 5U24CA143840/CA/NCI NIH HHS/United States P30 CA046592/CA/NCI NIH HHS/United States 5U24CA143867/CA/NCI NIH HHS/United States R01 CA050706/CA/NCI NIH HHS/United States 5U24CA143866/CA/NCI NIH HHS/United States U24 CA143866/CA/NCI NIH HHS/United States K08 CA160658/CA/NCI NIH HHS/United States R01 HG007069/HG/NHGRI NIH HHS/United States U54HG003067/HG/NHGRI NIH HHS/United States U24 CA143845/CA/NCI NIH HHS/United States U24 CA143799/CA/NCI NIH HHS/United States 5U24CA144025/CA/NCI NIH HHS/United States U54 HG003273/HG/NHGRI NIH HHS/United States 5U24CA143835/CA/NCI NIH HHS/United States P30 CA008748/CA/NCI NIH HHS/United States U24 CA144025/CA/NCI NIH HHS/United States 5U24CA143848/CA/NCI NIH HHS/United States U54HG003079/HG/NHGRI NIH HHS/United States U24 CA180951/CA/NCI NIH HHS/United States U24 CA143840/CA/NCI NIH HHS/United States U24 CA143843/CA/NCI NIH HHS/United States U24 CA143858/CA/NCI NIH HHS/United States P30 CA177558/CA/NCI NIH HHS/United States R01 HG006272/HG/NHGRI NIH HHS/United States 5U24CA143858/CA/NCI NIH HHS/United States U24 CA143848/CA/NCI NIH HHS/United States 5U24CA143845/CA/NCI NIH HHS/United States U54 HG003079/HG/NHGRI NIH HHS/United States 5U24CA143883/CA/NCI NIH HHS/United States U24 CA143883/CA/NCI NIH HHS/United States U24 CA143867/CA/NCI NIH HHS/United States 5U24CA143882/CA/NCI NIH HHS/United States 5U24CA143799/CA/NCI NIH HHS/United States Journal Article Research Support, N.I.H., Extramural United States 2014/11/25 Cell. 2014 Oct 23;159(3):676-90. doi: 10.1016/j.cell.2014.09.050.
doi  abstract   bibtex   
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions. These discoveries reduced the fraction of PTC cases with unknown oncogenic driver from 25% to 3.5%. Combined analyses of genomic variants, gene expression, and methylation demonstrated that different driver groups lead to different pathologies with distinct signaling and differentiation characteristics. Similarly, we identified distinct molecular subgroups of BRAF-mutant tumors, and multidimensional analyses highlighted a potential involvement of oncomiRs in less-differentiated subgroups. Our results propose a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties, which has the potential to improve their pathological classification and better inform the management of the disease.
@article{RN6151,
   title = {Integrated genomic characterization of papillary thyroid carcinoma},
   journal = {Cell},
   volume = {159},
   number = {3},
   pages = {676-90},
   note = {1097-4172
Cancer Genome Atlas Research Network
P30CA16672/CA/NCI NIH HHS/United States
UL1 TR000005/TR/NCATS NIH HHS/United States
P30 CA016672/CA/NCI NIH HHS/United States
5U24CA143843/CA/NCI NIH HHS/United States
U24 CA143882/CA/NCI NIH HHS/United States
U54 HG003067/HG/NHGRI NIH HHS/United States
U54HG003273/HG/NHGRI NIH HHS/United States
U24 CA143835/CA/NCI NIH HHS/United States
5U24CA143840/CA/NCI NIH HHS/United States
P30 CA046592/CA/NCI NIH HHS/United States
5U24CA143867/CA/NCI NIH HHS/United States
R01 CA050706/CA/NCI NIH HHS/United States
5U24CA143866/CA/NCI NIH HHS/United States
U24 CA143866/CA/NCI NIH HHS/United States
K08 CA160658/CA/NCI NIH HHS/United States
R01 HG007069/HG/NHGRI NIH HHS/United States
U54HG003067/HG/NHGRI NIH HHS/United States
U24 CA143845/CA/NCI NIH HHS/United States
U24 CA143799/CA/NCI NIH HHS/United States
5U24CA144025/CA/NCI NIH HHS/United States
U54 HG003273/HG/NHGRI NIH HHS/United States
5U24CA143835/CA/NCI NIH HHS/United States
P30 CA008748/CA/NCI NIH HHS/United States
U24 CA144025/CA/NCI NIH HHS/United States
5U24CA143848/CA/NCI NIH HHS/United States
U54HG003079/HG/NHGRI NIH HHS/United States
U24 CA180951/CA/NCI NIH HHS/United States
U24 CA143840/CA/NCI NIH HHS/United States
U24 CA143843/CA/NCI NIH HHS/United States
U24 CA143858/CA/NCI NIH HHS/United States
P30 CA177558/CA/NCI NIH HHS/United States
R01 HG006272/HG/NHGRI NIH HHS/United States
5U24CA143858/CA/NCI NIH HHS/United States
U24 CA143848/CA/NCI NIH HHS/United States
5U24CA143845/CA/NCI NIH HHS/United States
U54 HG003079/HG/NHGRI NIH HHS/United States
5U24CA143883/CA/NCI NIH HHS/United States
U24 CA143883/CA/NCI NIH HHS/United States
U24 CA143867/CA/NCI NIH HHS/United States
5U24CA143882/CA/NCI NIH HHS/United States
5U24CA143799/CA/NCI NIH HHS/United States
Journal Article
Research Support, N.I.H., Extramural
United States
2014/11/25
Cell. 2014 Oct 23;159(3):676-90. doi: 10.1016/j.cell.2014.09.050.},
   abstract = {Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions. These discoveries reduced the fraction of PTC cases with unknown oncogenic driver from 25% to 3.5%. Combined analyses of genomic variants, gene expression, and methylation demonstrated that different driver groups lead to different pathologies with distinct signaling and differentiation characteristics. Similarly, we identified distinct molecular subgroups of BRAF-mutant tumors, and multidimensional analyses highlighted a potential involvement of oncomiRs in less-differentiated subgroups. Our results propose a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties, which has the potential to improve their pathological classification and better inform the management of the disease.},
   keywords = {Carcinoma/*genetics/pathology
Carcinoma, Papillary
DNA Copy Number Variations
Gene Fusion
Humans
*Mutation
Thyroid Cancer, Papillary
Thyroid Gland/cytology/metabolism
Thyroid Neoplasms/*genetics/pathology},
   ISSN = {0092-8674 (Print)
0092-8674},
   DOI = {10.1016/j.cell.2014.09.050},
   year = {2014},
   type = {Journal Article}
}

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