PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Embargo End Date
ICR Authors
Authors
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,
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, V-M
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
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,
Benitez, J
Dunning, AM
Pharoah, PDP
Easton, DF
Czene, K
Hall, P
Lindblom, A
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,
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, V-M
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
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,
Benitez, J
Dunning, AM
Pharoah, PDP
Easton, DF
Czene, K
Hall, P
Lindblom, A
Document Type
Journal Article
Date
2017-11-28
Date Accepted
2017-08-31
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.
Citation
Oncotarget, 2017, 8 (61), pp. 102769 - 102782
Source Title
Publisher
IMPACT JOURNALS LLC
ISSN
1949-2553
eISSN
1949-2553
Research Team
Aetiological Epidemiology