LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome

Autor: I. P. M. Tomlinson, Gabriela Moeslein, Virpi Launonen, T Vogel, Mecklin Jp, F W M de Rooji, Kristiina Aittomäki, Anne Marie Westerman, James P. Robinson, Emmanouil Volikos, Andrew Silver, Lauri A. Aaltonen, Helinä Järvinen

Publikováno v: Journal of Medical Genetics, 43(5). BMJ Publishing Group

Background: LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using convent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745995d7e2c455e0bd122fa6643942b0
https://ora.ox.ac.uk/objects/uuid:b20eef3c-afa0-42a9-a797-b73ad7f1124f

Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers

Autor: Charles J. Yeo, Michael Goggins, Manu C. Shekher, Ravi K. Bansal, Gloria H. Su, Mark M. Entius, Anne Marie Westerman, David J. Tang, Ralph H. Hruban, Scott E. Kern, G. Steven Bova

Publikováno v: The American Journal of Pathology. 154:1835-1840

Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and by pigmented macules of the lips, buccal mucosa, and digits. Less appreciated is the fact that PJS also predisposes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23df3dd199b54e86576e5ae242502be
https://doi.org/10.1016/s0002-9440(10)65440-5

Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families

Autor: G. Johan A. Offerhaus, J. H. Paul Wilson, Anne Marie Westerman, Patrick P.C. Boor, Rita Koole, Dicky J. J. Halley, Jan Lubinski, Mark M. Entius, Ellen de Baar, Felix W. M. de Rooij, Dick Lindhout

Publikováno v: Human mutation, 13(6), 476-481. Wiley-Liss Inc.

The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9efc648a451043abaa1105a57d9b77
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.0.co

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

Autor: Felix W. M. de Rooij, G. Johan A. Offerhaus, Richard S. Houlston, J J Keller, Valérie Schumacher, Johan J.P. Gille, Gabriela Möslein, Sylviane Olschwang, Allan D. Spigelman, Robin K. S. Phillips, Brigitte Royer-Pokora, Jill D. Trimbath, N Hearle, Stephen B. Gruber, Anne Marie Westerman, Lisa A. Boardman, Fred H. Menko, Wendy Lim, Francis M. Giardiello, Tilman Vogel, Rodney J. Scott, Anika Hansmann, J. H. Paul Wilson

Publikováno v: Clinical Cancer Research, 12(10), 3209-15. American Association for Cancer Research Inc.
Hearle, N, Schumacher, V, Menko, F H, Olschwang, S, Boardman, L A, Gille, J J P, Keller, J J, Westerman, A M, Scott, R J, Lim, W, Trimbath, J D, Giardiello, F M, Gruber, S B, Offerhaus, G J A, de Rooij, F W M, Wilson, J H P, Hansmann, A, Möslein, G, Royer-Pokora, B, Vogel, T, Phillips, R K S, Spigelman, A D & Houlston, R S 2006, ' Frequency and spectrum of cancers in the Peutz-Jeghers syndrome ', Clinical Cancer Research, vol. 12, no. 10, pp. 3209-15 . https://doi.org/10.1158/1078-0432.CCR-06-0083
Clinical cancer research, 12(10), 3209-3215. American Association for Cancer Research Inc.
Clinical Cancer Research, 12(10), 3209-3215. American Association for Cancer Research Inc.

Background: Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. Experi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b824c475cb54f914475a5b6f2666ac56
https://research.vumc.nl/en/publications/12eae637-ab70-4b1a-9ac1-574540cd2022

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

Autor: Tomi P. Mäkelä, Pia Alhopuro, F W M de Rooij, Lauri A. Aaltonen, Auli Karhu, Sanna K. Ylisaukko-oja, T Vogel, J.H.P. Wilson, P Katajisto, Virpi Launonen, Laura Näätsaari, I. P. M. Tomlinson, Gabriela Moeslein, Anne Marie Westerman, Rainer Lehtonen

Publikováno v: University of Helsinki
British Journal of Cancer, 92(6), 1126-1129. Nature Publishing Group
British Journal of Cancer

Mutations in LKB1 lead to Peutz-Jeghers syndrome (PJS). However, only a subset of PJS patients harbours LKB1 mutations. We performed a mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in 28 L

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d182aadd4b0b85af851562094225a595
http://ora.ox.ac.uk/objects/uuid:8ccffa64-b991-49b6-8890-8d9fc6ad5834