Standard
PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1. / 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.
In:
OncoTarget, Vol. 8, No. 61, 2017, p. 102769-102782.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
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, MW, Blomqvist, C, Blot, W, Boeckx, B
, Bojesen, SE, Bonanni, B, Brand, JS, Brauch, H, Brenner, H, Broeks, A, Brüning, T, Burwinkel, B, Cai, Q, Chang-Claude, J, NBCS Collaborators, C, Couch, FJ, Cox, A, Cross, SS, Deming-Halverson, SL, Devilee, P, dos-Santos-Silva, I, Dörk, T, Eriksson, M, Fasching, PA, Figueroa, J, Flesch-Janys, D, Flyger, H, Gabrielson, M, García-Closas, M, Giles, GG, González-Neira, A, Guénel, P, Guo, Q, Gündert, 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, Marchand, LL, Lubinski, J, Mannermaa, A, Martens, JWM, Meindl, A, Milne, RL, Mulligan, AM, Neuhausen, SL, Nevanlinna, H, Peto, J, Pylkäs, 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, kConFab/AOCS Investigators, I, Benitez, J, Dunning, AM, Pharoah, PDP, Easton, DF, Czene, K, Hall, P & Lindblom, A 2017, '
PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1',
OncoTarget, vol. 8, no. 61, pp. 102769-102782.
https://doi.org/10.18632/oncotarget.21800APA
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., ... Lindblom, A. (2017).
PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1.
OncoTarget,
8(61), 102769-102782.
https://doi.org/10.18632/oncotarget.21800Vancouver
Jiao X, Aravidis C, Marikkannu R, Rantala J, Picelli S, Adamovic T et al.
PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1.
OncoTarget. 2017;8(61):102769-102782.
https://doi.org/10.18632/oncotarget.21800Author
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. / PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1. In: OncoTarget. 2017 ; Vol. 8, No. 61. pp. 102769-102782.
Bibtex
@article{744416c8262d4ac791e8bc1c71ff21f1,
title = "PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1",
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 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.",
keywords = "Familial breast cancer, Linkage analysis, Risk haplotype, Sequencing",
author = "Xiang Jiao and Christos Aravidis and Rajeshwari Marikkannu and Johanna Rantala and Simone Picelli and Tatjana Adamovic and Tao Liu and Paula Maguire and Barbara Kremeyer and Liping Luo and {von Holst}, Susanna and Vinaykumar Kontham and Jessada Thutkawkorapin and Sara Margolin and Quan Du and Johanna Lundin and Kyriaki Michailidou and Bolla, {Manjeet K.} and Qin Wang and Joe Dennis and Michael Lush and Ambrosone, {Christine B.} and Andrulis, {Irene L.} and Hoda Anton-Culver and Antonenkova, {Natalia N.} and Volker Arndt and Beckmann, {Matthias W.} and Carl Blomqvist and William Blot and Bram Boeckx and Bojesen, {Stig E.} and Bernardo Bonanni and Brand, {Judith S.} and Hiltrud Brauch and Hermann Brenner and Annegien Broeks and Thomas Br{\"u}ning and Barbara Burwinkel and Qiuyin Cai and Jenny Chang-Claude and {NBCS Collaborators}, Collaborators and Couch, {Fergus J.} and Angela Cox and Cross, {Simon S.} and Deming-Halverson, {Sandra L.} and Peter Devilee and Isabel dos-Santos-Silva and Thilo D{\"o}rk and Mikael Eriksson and Fasching, {Peter A.} and Jonine Figueroa and Dieter Flesch-Janys and Henrik Flyger and Marike Gabrielson and Montserrat Garc{\'i}a-Closas and Giles, {Graham G.} and Anna Gonz{\'a}lez-Neira and Pascal Gu{\'e}nel and Qi Guo and Melanie G{\"u}ndert and Haiman, {Christopher A.} and Emily Hallberg and Ute Hamann and Patricia Harrington and Hooning, {Maartje J.} and Hopper, {John L.} and Guanmengqian Huang and Anna Jakubowska and Jones, {Michael E.} and Kerin, {Michael J.} and Kosma, {Veli Matti} and Kristensen, {Vessela N.} and Diether Lambrechts and Marchand, {Loic Le} and Jan Lubinski and Arto Mannermaa and Martens, {John W.M.} and Alfons Meindl and Milne, {Roger L.} and Mulligan, {Anna Marie} and Neuhausen, {Susan L.} and Heli Nevanlinna and Julian Peto and Katri Pylk{\"a}s and Paolo Radice and Valerie Rhenius and Sawyer, {Elinor J.} and Schmidt, {Marjanka K.} and Schmutzler, {Rita K.} and Caroline Seynaeve and Mitul Shah and Jacques Simard and Southey, {Melissa C.} and Swerdlow, {Anthony J.} and Th{\'e}r{\`e}se Truong and Camilla Wendt and Robert Winqvist and Wei Zheng and {kConFab/AOCS Investigators}, Investigators and Javier Benitez and Dunning, {Alison M.} and Pharoah, {Paul D.P.} and Easton, {Douglas F.} and Kamila Czene and Per Hall and Annika Lindblom",
year = "2017",
doi = "10.18632/oncotarget.21800",
language = "English",
volume = "8",
pages = "102769--102782",
journal = "Oncotarget",
issn = "1949-2553",
publisher = "Impact Journals LLC",
number = "61",
}
RIS
TY - JOUR
T1 - PHIP
T2 - a novel candidate breast cancer susceptibility locus on 6q14.1
AU - Jiao, Xiang
AU - Aravidis, Christos
AU - Marikkannu, Rajeshwari
AU - Rantala, Johanna
AU - Picelli, Simone
AU - Adamovic, Tatjana
AU - Liu, Tao
AU - Maguire, Paula
AU - Kremeyer, Barbara
AU - Luo, Liping
AU - von Holst, Susanna
AU - Kontham, Vinaykumar
AU - Thutkawkorapin, Jessada
AU - Margolin, Sara
AU - Du, Quan
AU - Lundin, Johanna
AU - Michailidou, Kyriaki
AU - Bolla, Manjeet K.
AU - Wang, Qin
AU - Dennis, Joe
AU - Lush, Michael
AU - Ambrosone, Christine B.
AU - Andrulis, Irene L.
AU - Anton-Culver, Hoda
AU - Antonenkova, Natalia N.
AU - Arndt, Volker
AU - Beckmann, Matthias W.
AU - Blomqvist, Carl
AU - Blot, William
AU - Boeckx, Bram
AU - Bojesen, Stig E.
AU - Bonanni, Bernardo
AU - Brand, Judith S.
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Broeks, Annegien
AU - Brüning, Thomas
AU - Burwinkel, Barbara
AU - Cai, Qiuyin
AU - Chang-Claude, Jenny
AU - NBCS Collaborators, Collaborators
AU - Couch, Fergus J.
AU - Cox, Angela
AU - Cross, Simon S.
AU - Deming-Halverson, Sandra L.
AU - Devilee, Peter
AU - dos-Santos-Silva, Isabel
AU - Dörk, Thilo
AU - Eriksson, Mikael
AU - Fasching, Peter A.
AU - Figueroa, Jonine
AU - Flesch-Janys, Dieter
AU - Flyger, Henrik
AU - Gabrielson, Marike
AU - García-Closas, Montserrat
AU - Giles, Graham G.
AU - González-Neira, Anna
AU - Guénel, Pascal
AU - Guo, Qi
AU - Gündert, Melanie
AU - Haiman, Christopher A.
AU - Hallberg, Emily
AU - Hamann, Ute
AU - Harrington, Patricia
AU - Hooning, Maartje J.
AU - Hopper, John L.
AU - Huang, Guanmengqian
AU - Jakubowska, Anna
AU - Jones, Michael E.
AU - Kerin, Michael J.
AU - Kosma, Veli Matti
AU - Kristensen, Vessela N.
AU - Lambrechts, Diether
AU - Marchand, Loic Le
AU - Lubinski, Jan
AU - Mannermaa, Arto
AU - Martens, John W.M.
AU - Meindl, Alfons
AU - Milne, Roger L.
AU - Mulligan, Anna Marie
AU - Neuhausen, Susan L.
AU - Nevanlinna, Heli
AU - Peto, Julian
AU - Pylkäs, Katri
AU - Radice, Paolo
AU - Rhenius, Valerie
AU - Sawyer, Elinor J.
AU - Schmidt, Marjanka K.
AU - Schmutzler, Rita K.
AU - Seynaeve, Caroline
AU - Shah, Mitul
AU - Simard, Jacques
AU - Southey, Melissa C.
AU - Swerdlow, Anthony J.
AU - Truong, Thérèse
AU - Wendt, Camilla
AU - Winqvist, Robert
AU - Zheng, Wei
AU - kConFab/AOCS Investigators, Investigators
AU - Benitez, Javier
AU - Dunning, Alison M.
AU - Pharoah, Paul D.P.
AU - Easton, Douglas F.
AU - Czene, Kamila
AU - Hall, Per
AU - Lindblom, Annika
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Familial breast cancer
KW - Linkage analysis
KW - Risk haplotype
KW - Sequencing
U2 - 10.18632/oncotarget.21800
DO - 10.18632/oncotarget.21800
M3 - Journal article
C2 - 29262523
AN - SCOPUS:85035357496
VL - 8
SP - 102769
EP - 102782
JO - Oncotarget
JF - Oncotarget
SN - 1949-2553
IS - 61
ER -
