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

Title:	PHIP :a novel candidate breast cancer susceptibility locus on 6q14.1
Authors:	Jiao, Xiang; Aravidis, Christos; Marikkannu, Rajeshwari; Rantala, Johanna; Picelli, Simone; Adamovic, Tatjana; Liu, Tao; Maguire, Paula; Kremeyer, Barbara; Luo, Liping; von Holst, Susanna; Kontham, Vinaykumar; Thutkawkorapin, Jessada; Margolin, Sara; Du, Quan; Lundin, Johanna; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Lush, Michael; Ambrosone, Christine B.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Beckmann, Matthias W.; Blomqvist, Carl; Blot, William; Boeckx, Bram; Bojesen, Stig E.; Bonanni, Bernardo; Brand, Judith S.; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Chang-Claude, Jenny; NBCS Collaborators, Collaborators; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Deming-Halverson, Sandra L.; Devilee, Peter; dos-Santos-Silva, Isabel; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Flyger, Henrik; Gabrielson, Marike; García-Closas, Montserrat; Giles, Graham G.; González-Neira, Anna; Guénel, Pascal; Guo, Qi; Gündert, Melanie; Haiman, Christopher A.; Hallberg, Emily; Hamann, Ute; Harrington, Patricia; Hooning, Maartje J.; Hopper, John L.; Huang, Guanmengqian; Jakubowska, Anna; Jones, Michael E.; Kerin, Michael J.; Kosma, Veli Matti; Kristensen, Vessela N.; Lambrechts, Diether; Marchand, Loic Le; Lubinski, Jan; Mannermaa, Arto; Martens, John W.M.; Meindl, Alfons; Milne, Roger L.; Mulligan, Anna Marie; Neuhausen, Susan L.; Nevanlinna, Heli; Peto, Julian; Pylkäs, Katri; Radice, Paolo; Rhenius, Valerie; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Seynaeve, Caroline; Shah, Mitul; Simard, Jacques; Southey, Melissa C.; Swerdlow, Anthony J.; Truong, Thérèse; Wendt, Camilla; Winqvist, Robert; Zheng, Wei; kConFab/AOCS Investigators, Investigators; Benitez, Javier; Dunning, Alison M.; Pharoah, Paul D.P.; Easton, Douglas F.; Czene, Kamila; Hall, Per; Lindblom, Annika
Source:	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 , M K , Wang , Q , Dennis , J , Lush , M , Ambrosone , C B , Andrulis , I L , Anton-Culver , H ....
Publication Year:	2017
Collection:	University of Copenhagen: Research / Forskning ved Københavns Universitet
Subject Terms:	Familial breast cancer; Linkage analysis; Risk haplotype; Sequencing
Description:	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 moderaterisk 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.
Document Type:	article in journal/newspaper
File Description:	application/pdf
Language:	English
DOI:	10.18632/oncotarget.21800
Availability:	https://researchprofiles.ku.dk/da/publications/744416c8-262d-4ac7-91e8-bc1c71ff21f1; https://doi.org/10.18632/oncotarget.21800; https://curis.ku.dk/ws/files/188873008/21800_309857_8_PB.pdf
Rights:	info:eu-repo/semantics/openAccess
Accession Number:	edsbas.6BEA6DAE
Database:	BASE