Výsledky vyhledávání - "Pierre Hutter"

Akademický článek

A new bioinformatics tool to help assess the significance of BRCA1 variants

Autor: Isabelle Cusin, Daniel Teixeira, Monique Zahn-Zabal, Valentine Rech de Laval, Anne Gleizes, Valeria Viassolo, Pierre O. Chappuis, Pierre Hutter, Amos Bairoch, Pascale Gaudet

Publikováno v: Human Genomics, Vol 12, Iss 1, Pp 1-11 (2018)

Abstract Background Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obviously, not all var

Externí odkaz: https://doaj.org/article/3490c6acaf0b4b4d82f6cfe2451da075

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Supplementary Figure 3 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Autor: Douglas F. Easton, Rosalind A. Eeles, Zsofia Kote-Jarai, Antje E. Rinckleb, Aritaya Lophatonanon, John L. Hopper, Kathleen Herkommer, Rosemary Wilkinson, Emma Sawyer, Koveela Govindasami, Sarah J. Little, Tokhir Dadaev, Michelle Guy, Malgorzata Tymrakiewicz, Edward Saunders, Daniel Leongamornlert, Liesel FitzGerald, Amanda B. Spurdle, Melissa C. Southey, Angela Cox, Robert Stephenson, Hong-Wei Zhang, Yong-Jie Lu, Maurice P. Zeegers, William D. Foulkes, Radka P. Kaneva, Pierre Hutter, Pierre O. Chappuis, Kathleen A. Cooney, Stephen N. Thibodeau, Tomonori Habuchi, Charnita Zeigler-Johnson, Timothy R. Rebbeck, Hermann Brenner, Lisa Cannon-Albright, Joanne L. Dickinson, Thilo Doerk, Christiane Maier, Cezary Cybulski, Jong Y. Park, Torben F. Orntoft, Karina D. Sorensen, Sue A. Ingles, Børge G. Nordestgaard, Maren Weischer, Suzanne K. Chambers, Judith A. Clements, Jyotsna Batra, Janet L. Stanford, Elaine A. Ostrander, Paul D.P. Pharoah, Nora Pashayan, Fredrick R. Schumacher, Christopher A. Haiman, Brian E. Henderson, Johanna Schleutker, Kenneth Muir, Jenny L. Donovan, Freddie C. Hamdy, David E. Neal, Gianluca Severi, Graham G. Giles, Antonis C. Antoniou, Sara Benlloch, Ali Amin Al Olama

Supplementary Figure 3. Absolute Risk (A model with only family history of prostate cancer)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db78874fa09ae6c44ebc4d27448846d
https://doi.org/10.1158/1055-9965.22436151.v1

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Supplementary Notes from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Supplementary Notes. This document includes description of studies that they have been used for the analysis.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6856fc3803a7d2b924a833a058fb22
https://doi.org/10.1158/1055-9965.22436148

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Supplementary Figure 1 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Supplementary Figure 1. Absolute Risk (With family history of prostate cancer)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4bbd299e296798e45a02c262477ce5
https://doi.org/10.1158/1055-9965.22436157.v1

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Data from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Background: Genome-wide association studies have identified multiple genetic variants associated with prostate cancer risk which explain a substantial proportion of familial relative risk. These variants can be used to stratify individuals by their r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276052c69a243b8b32a143027629f405
https://doi.org/10.1158/1055-9965.c.6515256

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Supplementary Tables 1-8 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Supplementary Tables 1-8. Supplementary table 1: Total number of cases and controls in PRACTICAL III and GWAS stage 3 by population and study. Supplementary Table 2: Data information for family history and age at diagnosis/observation. Supplementary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191124fecf3a72fc259dbc54b4d9f429
https://doi.org/10.1158/1055-9965.22436145.v1

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Akademický článek

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

Autor: Sylviane Olschwang, Kai Yu, Christine Lasset, Stéphanie Baert-Desurmont, Marie-Pierre Buisine, Qing Wang, Pierre Hutter, Etienne Rouleau, Olivier Caron, Violaine Bourdon, Gilles Thomas

Publikováno v: Journal of Cancer Epidemiology, Vol 2009 (2009)

Lynch syndrome is mostly characterized by early-onset colorectal and endometrial adenocarcinomas. Over 90% of the causal mutations occur in two mismatch repair genes, MSH2 and MLH1. The aim of this study was to evaluate the age-dependent cancer risk

Externí odkaz: https://doaj.org/article/5e0f1bef701642f89e129fe61fa8440e

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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family

Autor: Olivier Jousson, Christophe Mas, Pierre Hutter, Colette Rossier, Stylianos E. Antonarakis, Nathalie Scamuffa, Robert Lyle, Michel Guipponi, Paolo Meda, Alexandre Reymond, Caroline Tapparel

Publikováno v: Human Genetics, Vol. 109, No 6 (2001) pp. 569-575

The human TPTE gene encodes a testis-specific protein that contains four potential transmembrane domains and a protein tyrosine phosphatase motif, and shows homology to the tumor suppressor PTEN/MMAC1. Chromosomal mapping revealed multiple copies of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f5d2e0316454b1473dc21897b7c007
http://doc.rero.ch/record/321876/files/439_2014_Article_607.pdf

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Double frameshift mutations in APC and MSH2 in the same individual

Autor: Jean-Louis Blouin, Zuzana Dobbie, Marie-Anne Brundler, Celia D. DeLozier, Pierre Hutter, Claudine Rey Berthod, William D. Foulkes, Claudio Soravia, Eviano Arrigoni

Publikováno v: International Journal of Colorectal Disease, Clinical and Molecular Gastroenterology and Surgery, Vol. 20, No 5 (2005) pp. 466-470
International Journal of Colorectal Disease, Clinical and Molecular Gastroenterology and Surgery, Vol. 21, No 1 (2006) pp. 79-83

Heterozygous germline DNA mismatch repair gene mutations are typically associated with HNPCC. Here we report the case of a proband whose father was known for familial adenomatous polyposis. The number of polyps (less than ten) was not typical of poly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73420ebc83c7b52e87f6d74644328f24
http://doc.rero.ch/record/319807/files/384_2006_Article_233.pdf

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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Autor: Tsun Leung Chan, Eugène T P Verwiel, Irma Kluijt, Diana Eccles, Rolf H. Sijmons, Egbert J.W. Redeker, Rachel S. van der Post, Encarna B. Gomez Garcia, Reinhard Büttner, Cora M. Aalfs, Roland P. Kuiper, Johan J.P. Gille, Bernadette P M van Nesselrooij, Frans B. L. Hogervorst, Marjolijn J L Ligtenberg, Tracy Graham, Julie O. Culver, Edith Olah, Monique Goossens, Carli M. J. Tops, Elke Holinski-Feder, David J. Bunyan, Marielle E. van Gijn, Frederik J. Hes, Suet Yi Leung, Pierre O. Chappuis, Monika Morak, Edward M Leter, Nils Rahner, Lea Velsher, János Papp, Renee C. Niessen, J. Han van Krieken, Lambertus A. Kiemeney, Ad Geurts van Kessel, Charlotte W. Ockeloen, Nicoline Hoogerbrugge, Marlies Kempers, Iris D. Nagtegaal, Verena Steinke, Hans K. Schackert, Matthias Kloor, Melanie R. Palomares, Sapna Syngal, Pierre Hutter, Elena M. Stoffel

Publikováno v: Kempers, M J E, Kuiper, R P, Ockeloen, C W, Chappuis, P O, Hutter, P, Rahner, N, Schackert, H K, Steinke, V, Holinski-Feder, E, Morak, M, Kloor, M, Buttner, R, Verwiel, E T P, van Krieken, J H, Nagtegaal, I D, Goossens, M, van der Post, R S, Niessen, R C, Sijmons, RH, Kluijt, I, Hogervorst, F B L, Leter, E M, Gille, J J P, Aalfs, C M, Redeker, E J W, Hes, F J, Tops, C M J, van Nesselrooij, B P M, van Gijn, M E, Garcia, E B G, Eccles, D M, Bunyan, D J, Syngal, S, Stoffel, E M, Culver, J O, Palomares, M R, Graham, T, Velsher, L, Papp, J, Olah, E, Chan, T L, Leung, S Y, van Kessel, A G, Kiemeney, L A L M, Hoogerbrugge, N & Ligtenberg, M J L 2011, ' Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study ', Lancet Oncology, vol. 12, no. 1, pp. 49-55 . https://doi.org/10.1016/S1470-2045(10)70265-5
The Lancet Oncology, 49-55
STARTPAGE=49;ENDPAGE=55;TITLE=The Lancet Oncology
Lancet Oncology, 12, 1, pp. 49-55
Lancet oncology, 12(1), 49-55. Elsevier Science
Lancet Oncology, 12, 49-55
lancet oncology, 12(1), 49-55. Lancet Publishing Group
Lancet Oncology, 12(1), 49-55. ELSEVIER SCIENCE INC
Lancet Oncology, 12(1), 49-55. Lancet Publishing Group

Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3′ end deletions of EPCAM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f4a39c0f97e31d38f52cdcda56a8a1
https://hdl.handle.net/2066/97324

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