PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Journal article


Publication Details

Author(s): Jiao X, Aravidis C, Marikkannu R, Rantala J, Picelli S, Adamovic T, Liu T, Maguire P, Kremeyer B, Luo L, Von Holst S, Kontham V, Thutkawkorapin J, Margolin S, Du Q, Lundin J, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Beckmann M, Blomqvist C, Blot W, Boeckx B, Bojesen SE, Bonanni B, Brand JS, Brauch H, Brenner H, Broeks A, Bruning T, Burwinkel B, Cai Q, Chang-Claude J, Couch FJ, Cox A, Cross SS, Deming-Halverson SL, Devilee P, Dos-Santos-Silva I, Dork T, Eriksson M, Fasching P, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, Garcia-Closas M, Giles GG, Gonzalez-Neira A, Guenel P, Guo Q, Gundert M, Haiman CA, Hallberg E, Hamann U, Harrington P, Hooning MJ, Hopper JL, Huang G, Jakubowska A, Jones ME, Kerin MJ, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Lubinski J, Mannermaa A, Martens JWM, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Peto J, Pylkas K, Radice P, Rhenius V, Sawyer EJ, Schmidt MK, Schmutzler RK, Seynaeve C, Shah M, Simard J, Southey MC, Swerdlow AJ, Truong T, Wendt C, Winqvist R, Zheng W, Benitez J, Dunning AM, Pharoah PDP, Easton DF, Czene K, Hall P, Lindblom A
Journal: Oncotarget
Publication year: 2017
Volume: 8
Journal issue: 61
Pages range: 102769-102782
ISSN: 1949-2553


Abstract

Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD >2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.


FAU Authors / FAU Editors

Beckmann, Matthias Prof. Dr.
Lehrstuhl für Geburtshilfe und Frauenheilkunde
Fasching, Peter PD Dr.
Professur für Translationale Frauenheilkunde und Geburtshilfe


External institutions
Antoni van Leeuwenhoek
Beckman Research Institute of City of Hope (BRI)
Cancer Council Victoria
Copenhagen University Hospital
Deutsches Krebsforschungszentrum (DKFZ)
École Polytechnique - Université Paris-Saclay
Erasmus University Medical Center
European Institute of Oncology / Istituto Europeo di Oncologia (IEO)
Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB)
Hannover Medical School / Medizinische Hochschule Hannover (MHH)
Helsingin yliopisto / University of Helsinki
Istituto di ricovero e cura a carattere scientifico (IRCCS)
Karolinska Institute
King’s College London
Leiden University
London School of Hygiene and Tropical Medicine
Mayo Clinic
Mount Sinai Hospital (MSH)
National Cancer Institute (NCI)
National University of Ireland (NUI), Galway
N.N. Alexandrov National Cancer Centre of Belarus for Oncology and Medical Radiology
Oulun Yliopisto / University of Oulo
Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU)
Robert-Bosch-Krankenhaus
Roswell Park Cancer Institute
Ruhr-Universität Bochum (RUB)
Ruprecht-Karls-Universität Heidelberg
Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO)
Technische Universität München (TUM)
The Institute of Cancer Research (ICR)
The University of Melbourne
Universitätsklinikum Hamburg-Eppendorf (UKE)
Universitätsklinikum Köln
Université Laval (UL)
University of California Irvine
University of Cambridge
University of Eastern Finland
University of Edinburgh
University of Hawaii (U.H.)
University of Oslo
University of Sheffield
University of Southern California (USC)
University of Toronto
Vanderbilt University


How to cite

APA:
Jiao, X., Aravidis, C., Marikkannu, R., Rantala, J., Picelli, S., Adamovic, T.,... Lindblom, A. (2017). PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. Oncotarget, 8(61), 102769-102782. https://dx.doi.org/10.18632/oncotarget.21800

MLA:
Jiao, Xiang, et al. "PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1." Oncotarget 8.61 (2017): 102769-102782.

BibTeX: 

Last updated on 2019-25-04 at 14:57