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

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 (2017)


Publication Type: Journal article

Publication year: 2017

Journal

Book Volume: 8

Pages Range: 102769-102782

Journal Issue: 61

DOI: 10.18632/oncotarget.21800

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.

Authors with CRIS profile

Involved external institutions

Karolinska Institute SE Sweden (SE) University of Cambridge GB United Kingdom (GB) Roswell Park Cancer Institute US United States (USA) (US) Mount Sinai Hospital (MSH) CA Canada (CA) University of California Irvine US United States (USA) (US) N.N. Alexandrov National Cancer Centre of Belarus for Oncology and Medical Radiology BY Belarus (BY) Helsingin yliopisto / University of Helsinki FI Finland (FI) Vanderbilt University US United States (USA) (US) Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB) BE Belgium (BE) Copenhagen University Hospital DK Denmark (DK) European Institute of Oncology / Istituto Europeo di Oncologia (IEO) IT Italy (IT) Robert-Bosch-Krankenhaus DE Germany (DE) Deutsches Krebsforschungszentrum (DKFZ) DE Germany (DE) Antoni van Leeuwenhoek NL Netherlands (NL) Ruhr-Universität Bochum (RUB) DE Germany (DE) Ruprecht-Karls-Universität Heidelberg DE Germany (DE) Mayo Clinic US United States (USA) (US) University of Sheffield GB United Kingdom (GB) Leiden University NL Netherlands (NL) London School of Hygiene and Tropical Medicine GB United Kingdom (GB) Medizinische Hochschule Hannover (MHH) / Hannover Medical School DE Germany (DE) University of Edinburgh GB United Kingdom (GB) Universitätsklinikum Hamburg-Eppendorf (UKE) DE Germany (DE) National Cancer Institute (NCI) US United States (USA) (US) Cancer Council Victoria AU Australia (AU) Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO) ES Spain (ES) École Polytechnique - Université Paris-Saclay FR France (FR) University of Southern California (USC) US United States (USA) (US) Erasmus University Medical Center (MC) NL Netherlands (NL) The University of Melbourne AU Australia (AU) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) PL Poland (PL) The Institute of Cancer Research (ICR) GB United Kingdom (GB) National University of Ireland (NUI), Galway IE Ireland (IE) University of Eastern Finland FI Finland (FI) University of Oslo NO Norway (NO) University of Hawaii (U.H.) US United States (USA) (US) Technische Universität München (TUM) DE Germany (DE) University of Toronto CA Canada (CA) Beckman Research Institute of City of Hope (BRI) US United States (USA) (US) Oulun Yliopisto / University of Oulo FI Finland (FI) Istituto di ricovero e cura a carattere scientifico (IRCCS) IT Italy (IT) King’s College London GB United Kingdom (GB) Universitätsklinikum Köln DE Germany (DE) Université Laval (UL) CA Canada (CA)

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.

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