Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Taina T. Nieminen; Marie-Francoise O'Donohue; Yunpeng Wu; Hannes Lohi; Stephen W. Scherer; Andrew D. Paterson; Pekka Ellonen; Wael M. Abdel-Rahman; Satu Valo; Jukka-Pekka Mecklin; Heikki J. Jarvinen; Pierre-Emmanuel Gleizes; Paivi Peltomaki

doi:10.1053/j.gastro.2014.06.009

Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Taina T. Nieminen, Marie-Francoise O'Donohue, Yunpeng Wu, Hannes Lohi, Stephen W. Scherer, Andrew D. Paterson, Pekka Ellonen, Wael M. Abdel-Rahman, Satu Valo, Jukka-Pekka Mecklin, Heikki J. Jarvinen, Pierre-Emmanuel Gleizes, Paivi Peltomaki

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Gastroenterology
Volume	147
Issue number	3
Pages (from-to)	595-+
Number of pages	9
ISSN	0016-5085
DOIs	https://doi.org/10.1053/j.gastro.2014.06.009
Publication status	Published - Sep 2014
MoE publication type	A1 Journal article-refereed

Fields of Science

Colon Cancer
Hereditary Nonpolyposis Colorectal Cancer
Ribosome
Exome Sequencing
DIAMOND-BLACKFAN ANEMIA
LYNCH-SYNDROME
COLON-CANCER
HNPCC
MSH6
MLH1
RNA
3111 Biomedicine

Access to Document

10.1053/j.gastro.2014.06.009

1-s2.0-S0016508514007707-mainFinal published version, 1.18 MBLicence: CC BY-NC-ND

Equipment

FIMM Sequencing

Pekka Ellonen (Manager)

Institute for Molecular Medicine Finland

Facility/equipment: Equipment

Cite this

Nieminen, T. T., O'Donohue, M-F., Wu, Y., Lohi, H., Scherer, S. W., Paterson, A. D., Ellonen, P., Abdel-Rahman, W. M., Valo, S., Mecklin, J-P., Jarvinen, H. J., Gleizes, P-E., & Peltomaki, P. (2014). Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency. Gastroenterology, 147(3), 595-+. https://doi.org/10.1053/j.gastro.2014.06.009

Nieminen, Taina T. ; O'Donohue, Marie-Francoise ; Wu, Yunpeng ; Lohi, Hannes ; Scherer, Stephen W. ; Paterson, Andrew D. ; Ellonen, Pekka ; Abdel-Rahman, Wael M. ; Valo, Satu ; Mecklin, Jukka-Pekka ; Jarvinen, Heikki J. ; Gleizes, Pierre-Emmanuel ; Peltomaki, Paivi. / Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency. In: Gastroenterology. 2014 ; Vol. 147, No. 3. pp. 595-+.

@article{f21b003a56da4472a00e4d0e5ed72b5b,

title = "Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency",

keywords = "Colon Cancer, Hereditary Nonpolyposis Colorectal Cancer, Ribosome, Exome Sequencing, DIAMOND-BLACKFAN ANEMIA, LYNCH-SYNDROME, COLON-CANCER, HNPCC, MSH6, MLH1, RNA, 3111 Biomedicine",

author = "Nieminen, {Taina T.} and Marie-Francoise O'Donohue and Yunpeng Wu and Hannes Lohi and Scherer, {Stephen W.} and Paterson, {Andrew D.} and Pekka Ellonen and Abdel-Rahman, {Wael M.} and Satu Valo and Jukka-Pekka Mecklin and Jarvinen, {Heikki J.} and Pierre-Emmanuel Gleizes and Paivi Peltomaki",

year = "2014",

month = sep,

doi = "10.1053/j.gastro.2014.06.009",

language = "English",

volume = "147",

pages = "595--+",

journal = "Gastroenterology",

issn = "0016-5085",

publisher = "W B SAUNDERS CO-ELSEVIER INC",

number = "3",

}

Nieminen, TT, O'Donohue, M-F, Wu, Y, Lohi, H, Scherer, SW, Paterson, AD, Ellonen, P, Abdel-Rahman, WM, Valo, S, Mecklin, J-P, Jarvinen, HJ, Gleizes, P-E & Peltomaki, P 2014, 'Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency', Gastroenterology, vol. 147, no. 3, pp. 595-+. https://doi.org/10.1053/j.gastro.2014.06.009

Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency. / Nieminen, Taina T.; O'Donohue, Marie-Francoise; Wu, Yunpeng; Lohi, Hannes; Scherer, Stephen W.; Paterson, Andrew D.; Ellonen, Pekka; Abdel-Rahman, Wael M.; Valo, Satu; Mecklin, Jukka-Pekka; Jarvinen, Heikki J.; Gleizes, Pierre-Emmanuel; Peltomaki, Paivi.

In: Gastroenterology, Vol. 147, No. 3, 09.2014, p. 595-+.

Research output: Contribution to journal › Article › Scientific › peer-review

TY - JOUR

T1 - Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

AU - Nieminen, Taina T.

AU - O'Donohue, Marie-Francoise

AU - Wu, Yunpeng

AU - Lohi, Hannes

AU - Scherer, Stephen W.

AU - Paterson, Andrew D.

AU - Ellonen, Pekka

AU - Abdel-Rahman, Wael M.

AU - Valo, Satu

AU - Mecklin, Jukka-Pekka

AU - Jarvinen, Heikki J.

AU - Gleizes, Pierre-Emmanuel

AU - Peltomaki, Paivi

PY - 2014/9

Y1 - 2014/9

KW - Colon Cancer

KW - Hereditary Nonpolyposis Colorectal Cancer

KW - Ribosome

KW - Exome Sequencing

KW - DIAMOND-BLACKFAN ANEMIA

KW - LYNCH-SYNDROME

KW - COLON-CANCER

KW - HNPCC

KW - MSH6

KW - MLH1

KW - RNA

KW - 3111 Biomedicine

U2 - 10.1053/j.gastro.2014.06.009

DO - 10.1053/j.gastro.2014.06.009

M3 - Article

VL - 147

SP - 595-+

JO - Gastroenterology

JF - Gastroenterology

SN - 0016-5085

IS - 3

ER -