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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Artikel i vetenskaplig tidskrift
Författare Antonis C Antoniou
Olga M Sinilnikova
Lesley McGuffog
Sue Healey
Heli Nevanlinna
Tuomas Heikkinen
Jacques Simard
Amanda B Spurdle
Jonathan Beesley
Xiaoqing Chen
Susan L Neuhausen
Yuan C Ding
Fergus J Couch
Xianshu Wang
Zachary Fredericksen
Paolo Peterlongo
Bernard Peissel
Bernardo Bonanni
Alessandra Viel
Loris Bernard
Paolo Radice
Csilla I Szabo
Lenka Foretova
Michal Zikan
Kathleen Claes
Mark H Greene
Phuong L Mai
Gad Rennert
Flavio Lejbkowicz
Irene L Andrulis
Hilmi Ozcelik
Gord Glendon
Anne-Marie Gerdes
Mads Thomassen
Lone Sunde
Maria A Caligo
Yael Laitman
Tair Kontorovich
Shimrit Cohen
Bella Kaufman
Efrat Dagan
Ruth Gershoni Baruch
Eitan Friedman
Katja Harbst
Gisela Barbany-Bustinza
Johanna Rantala
Hans Ehrencrona
Per Karlsson
Susan M Domchek
Katherine L Nathanson
Ana Osorio
Ignacio Blanco
Adriana Lasa
Javier Benítez
Ute Hamann
Frans B L Hogervorst
Matti A Rookus
J Margriet Collee
Peter Devilee
Marjolijn J Ligtenberg
Rob B van der Luijt
Cora M Aalfs
Quinten Waisfisz
Juul Wijnen
Cornelis E P van Roozendaal
Susan Peock
Margaret Cook
Debra Frost
Clare Oliver
Radka Platte
D Gareth Evans
Fiona Lalloo
Rosalind Eeles
Louise Izatt
Rosemarie Davidson
Carol Chu
Diana Eccles
Trevor Cole
Shirley Hodgson
Andrew K Godwin
Dominique Stoppa-Lyonnet
Bruno Buecher
Mélanie Léoné
Brigitte Bressac-de Paillerets
Audrey Remenieras
Olivier Caron
Gilbert M Lenoir
Nicolas Sevenet
Michel Longy
Sandra Fert Ferrer
Fabienne Prieur
David Goldgar
Alexander Miron
Esther M John
Saundra S Buys
Mary B Daly
John L Hopper
Mary Beth Terry
Yosuf Yassin
Christian Singer
Daphne Gschwantler-Kaulich
Christine Staudigl
Thomas V O Hansen
Rosa Bjork Barkardottir
Tomas Kirchhoff
Prodipto Pal
Kristi Kosarin
Kenneth Offit
Marion Piedmonte
Gustavo C Rodriguez
Katie Wakeley
John F Boggess
Jack Basil
Peter E Schwartz
Stephanie V Blank
Amanda E Toland
Marco Montagna
Cinzia Casella
Evgeny N Imyanitov
Anna Allavena
Rita K Schmutzler
Beatrix Versmold
Christoph Engel
Alfons Meindl
Nina Ditsch
Norbert Arnold
Dieter Niederacher
Helmut Deissler
Britta Fiebig
Christian Suttner
Ines Schönbuchner
Dorothea Gadzicki
Trinidad Caldes
Miguel de la Hoya
Karen A Pooley
Douglas F Easton
Georgia Chenevix-Trench
Margareta Nordling
Annika Bergman
A. Liljegren
Publicerad i Human molecular genetics
Volym 18
Nummer/häfte 22
Sidor 4442-56
ISSN 1460-2083
Publiceringsår 2009
Publicerad vid Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik
Institutionen för kliniska vetenskaper
Sidor 4442-56
Språk en
Länkar dx.doi.org/10.1093/hmg/ddp372
Ämnesord Adult, Aged, Aged, 80 and over, BRCA1 Protein, genetics, BRCA2 Protein, genetics, Breast Neoplasms, genetics, Chromosomes, Human, Pair 2, genetics, Chromosomes, Human, Pair 8, genetics, Female, Follow-Up Studies, Genetic Predisposition to Disease, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Heterozygote, Humans, Microfilament Proteins, genetics, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Young Adult
Ämneskategorier Tumörbiologi

Sammanfattning

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.

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