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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., et al PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. Oncotarget. 2017; 8: 102769-102782. Retrieved from https://www.oncotarget.com/article/21800/text/

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

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Author: Jiao, Xiang1; Aravidis, Christos1,2; Marikkannu, Rajeshwari1;
Rantala, Johanna1; Picelli, Simone1; Adamovic, Tatjana1; Liu, Tao1; Maguire, Paula1; Kremeyer, Barbara1; Luo, Liping1; Von Holst, Susanna1; Kontham, Vinaykumar1; Thutkawkorapin, Jessada1; Margolin, Sara3; Du, Quan1; Lundin, Johanna1; Michailidou, Kyriaki4,5; Bolla, Manjeet K.4; Wang, Qin4; Dennis, Joe4; Lush, Michael4; Ambrosone, Christine B.6; Andrulis, Irene L.7,8; Anton-Culver, Hoda9; Antonenkova, Natalia N.10; Arndt, Volker11; Beckmann, Matthias W.12; Blomqvist, Carl13; Blot, William14,15; Boeckx, Bram16,17; Bojesen, Stig E.18,19,20; Bonanni, Bernardo21; Brand, Judith S.22; Brauch, Hiltrud23,24,25; Brenner, Hermann11,25,26,27; Broeks, Annegien28; Bruning, Thomas29; Burwinkel, Barbara30,31; Cai, Qiuyin14; Chang-Claude, Jenny32,33; Couch, Fergus J.34; Cox, Angela35; Cross, Simon S.36; Deming-Halverson, Sandra L.14; Devilee, Peter37,38; dos-Santos-Silva, Isabel39; Dork, Thilo40; Eriksson, Mikael22; Fasching, Peter A.12,41,42; Figueroa, Jonine43,44; Flesch-Janys, Dieter45,46; Flyger, Henrik47; Gabrielson, Marike22; Garcia-Closas, Montserrat44; Giles, Graham G.48,49; Gonzalez-Neira, Anna50; Guenel, Pascal51; Guo, Qi52; Gundert, Melanie30,31; Haiman, Christopher A.53; Hallberg, Emily54; Hamann, Ute55; Harrington, Patricia56; Hooning, Maartje J.57; Hopper, John L.49; Huang, Guanmengqian55; Jakubowska, Anna58; Jones, Michael E.59; Kerin, Michael J.60; Kosma, Veli-Matti61,62,63; Kristensen, Vessela N.64,65,66; Lambrechts, Diether16,17; Le Marchand, Loic67; Lubinski, Jan58; Mannermaa, Arto61,62,63; Martens, John W. M.57; Meindl, Alfons68; Milne, Roger L.48,49; Mulligan, Anna Marie69,70; Neuhausen, Susan L.71; Nevanlinna, Heli72; Peto, Julian39; Pylkas, Katri73,74; Radice, Paolo75; Rhenius, Valerie56; Sawyer, Elinor J.76; Schmidt, Marjanka K.28,77; Schmutzler, Rita K.78,79,80; Seynaeve, Caroline57; Shah, Mitul56; Simard, Jacques81; Southey, Melissa C.82; Swerdlow, Anthony J.59,83; Truong, Therese51; Wendt, Camilla3; Winqvist, Robert73,74; Zheng, Wei14; Benitez, Javier50,84; Dunning, Alison M.56; Pharoah, Paul D. P.4,56; Easton, Douglas F.4,56; Czene, Kamila22; Hall, Per22; Lindblom, Annika1
Organizations: 1Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
2Uppsala Univ, Dept Immunol Genet & Pathol, Uppsala, Sweden.
3Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.
4Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.
5Cyprus Inst Neurol & Genet, Dept Elect Microscopy Mol Pathol, Nicosia, Cyprus.
6Roswell Pk Canc Inst, Buffalo, NY 14263 USA.
7Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada.
8Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
9Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA.
10NN Alexandrov Res Inst Oncol & Med Radiol, Minsk, BELARUS.
11German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.
12Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Dept Gynaecol & Obstet, Erlangen, Germany.
13Univ Helsinki, Helsinki Univ Hosp, Dept Oncol, Helsinki, Finland.
14Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.
15Int Epidemiol Inst, Rockville, MD USA.
16VIB, VIB Ctr Canc Biol, Leuven, Belgium.
17Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium.
18Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Copenhagen Gen Populat Study, Herlev, Denmark.
19Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Herlev, Denmark.
20Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark.
21Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy.
22Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
23Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany.
24Univ Tubingen, Tubingen, Germany.
25German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany.
26German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany.
27Natl Ctr Tumor Dis NCT, Heidelberg, Germany.
28Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, Amsterdam, Netherlands.
29Ruhr Univ Bochum, Inst Prevent & Occupat Med, German Social Accid Insurance, Bochum, Germany.
30Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.
31German Canc Res Ctr, Mol Epidemiol Grp, C080, Heidelberg, Germany.
32German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany.
33Univ Canc Ctr Hamburg, Univ Med Ctr Hamburg Eppendorf, Res Grp Genet Canc Epidemiol, Hamburg, Germany.
34Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.
35Univ Sheffield, Dept Oncol & Metab, Sheffield Inst Nucle Acids SInFoNiA, Sheffield, S Yorkshire, England.
36Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England.
37Leiden Univ, Med Ctr, Dept Pathol, Leiden, Netherlands.
38Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands.
39London Sch Hyg & Trop Med, Dept Noncommun Dis Epidemiol, London, England.
40Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany.
41Univ Calif Los Angeles, Dept Med, David Geffen Sch Med, Los Angeles, CA 90024 USA.
42Univ Calif Los Angeles, Div Hematol & Oncol, Los Angeles, CA USA.
43Univ Edinburgh, Med Sch, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland.
44NCI, Div Canc Epidemiol & Genet, Rockville, MD USA.
45Univ Med Ctr Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany.
46Univ Med Ctr Hamburg Eppendorf, Clin Canc Registry, Dept Canc Epidemiol, Hamburg, Germany.
47Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Breast Surg, Herlev, Denmark.
48Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia.
49Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.
50Spanish Natl Canc Res Ctr, Human Canc Genet Program, Madrid, Spain.
51Univ Paris Saclay, Univ Paris Sud, INSERM, Ctr Res Epidemiol & Populat Hlth CESP,Canc & Envi, Villejuif, France.
52Univ Cambridge, Dept Publ Hlth & Primary Care, Cardiovasc Epidemiol Unit, Cambridge, England.
53Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA.
54Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA.
55German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany.
56Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.
57Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands.
58Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland.
59Inst Canc Res, Div Genet & Epidemiol, London, England.
60Natl Univ Ireland, Sch Med, Galway, Ireland.
61Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland.
62Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.
63Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio, Finland.
64Univ Oslo, Hosp Radiumhosp, Inst Canc Res, Dept Canc Genet, Oslo, Norway.
65Univ Oslo, Fac Med, Inst Clin Med, Oslo, Norway.
66Univ Oslo, Oslo Univ Hosp, Dept Clin Mol Biol, Oslo, Norway.
67Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA.
68Tech Univ Munich, Div Gynaecol & Obstet, Munich, Germany.
69Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.
70Univ Hlth Network, Lab Med Program, Toronto, ON, Canada.
71Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA.
72Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.
73Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, Oulu, Finland.
74Northern Finland Lab Ctr Oulu, Lab Canc Genet & Tumor Biol, Oulu, Finland.
75INT, Fdn IRCCS, Ist Ricovero Cura Carattere Sci, Dept Res, Milan, Italy.
76Kings Coll London, Guys Hosp, Res Oncol, London, England.
77Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, Amsterdam, Netherlands.
78Univ Hosp Cologne, Ctr Hereditary Breast & Ovarian Canc, Cologne, Germany.
79Univ Hosp Cologne, Ctr Integrated Oncol, Cologne, Germany.
80Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany.
81Laval Univ, Univ Quebec, Res Ctr, Ctr Hosp,Gen Ctr, Quebec City, PQ, Canada.
82Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia.
83Inst Canc Res, Div Breast Canc Res, London, England.
84Ctr Invest Red Enfermedades Raras CIBERER, Valencia, Spain.
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.2 MB)
Persistent link: http://urn.fi/urn:nbn:fi-fe202103258462
Language: English
Published: Impact Journals, 2017
Publish Date: 2021-03-25
Description:

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.

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Series: Oncotarget
ISSN: 1949-2553
ISSN-E: 1949-2553
ISSN-L: 1949-2553
Volume: 8
Issue: 61
Pages: 102769 - 102782
DOI: 10.18632/oncotarget.21800
OADOI: https://oadoi.org/10.18632/oncotarget.21800
Type of Publication: A1 Journal article – refereed
Field of Science: 3122 Cancers
Subjects:
familial breast cancer
linkage analysis
risk haplotype
sequencing
Article
Funding: The study was supported by grants provided by the Swedish Cancer Society (Cancerfonden), the Stockholm County Council (ALF project), the Swedish Research Council (Vetenskapsrådet), the Stockholm Cancer Society (Radiumhemsfonderna) and Bert von Kantzows and Nilsson-Ehle’s foundations. BCAC is funded by Cancer Research UK (C1287/A16563, C1287/A10118), the European Union’s Horizon 2020 Research and Innovation Programme (grant numbers 634935 and 633784 for BRIDGES and B-CAST respectively), and by the European Community´s Seventh Framework Programme under grant agreement number 223175 (grant number HEALTH-F2-2009-223175) (COGS). Funding for the iCOGS infrastructure came from: the European Community’s Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. Funding of individual BCAC studies is listed in the Supplemental Note.
Copyright information: © 2017 The Author(s). Oncotarget applies the Creative Commons Attribution 3.0 License (CC BY 3.0) to all works we publish.
  https://creativecommons.org/licenses/by/3.0/