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

Xiang Jiao; Christos Aravidis; Rajeshwari Marikkannu; Johanna Rantala; Simone Picelli; Tatjana Adamovic; Tao Liu; Paula Maguire; Barbara Kremeyer; Liping Luo; Susanna von Holst; Vinaykumar Kontham; Jessada Thutkawkorapin; Sara Margolin; Quan Du; Johanna Lundin; Kyriaki Michailidou; Manjeet K Bolla; Qin Wang; Joe Dennis; Michael Lush; Christine B Ambrosone; Irene L Andrulis; Hoda Anton-Culver; Natalia N Antonenkova; Volker Arndt; Matthias W Beckmann; Carl Blomqvist; William Blot; Bram Boeckx; Stig E Bojesen; Bernardo Bonanni; Judith S Brand; Hiltrud Brauch; Hermann Brenner; Annegien Broeks; Thomas Brüning; Barbara Burwinkel; Qiuyin Cai; Jenny Chang-Claude; Fergus J Couch; Angela Cox; Simon S Cross; Sandra L Deming-Halverson; Peter Devilee; Isabel Dos-Santos-Silva; Thilo Dörk; Mikael Eriksson; Peter A Fasching; Jonine Figueroa; NBCS Collaborators

doi:10.18632/oncotarget.21800

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

Xiang Jiao, Christos Aravidis, Rajeshwari Marikkannu, Johanna Rantala, Simone Picelli, Tatjana Adamovic, Tao Liu, Paula Maguire, Barbara Kremeyer, Liping Luo, Susanna von Holst, Vinaykumar Kontham, Jessada Thutkawkorapin, Sara Margolin, Quan Du, Johanna Lundin, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe DennisMichael Lush, Christine B Ambrosone, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Matthias W Beckmann, Carl Blomqvist, William Blot, Bram Boeckx, Stig E Bojesen, Bernardo Bonanni, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Qiuyin Cai, Jenny Chang-Claude, Fergus J Couch, Angela Cox, Simon S Cross, Sandra L Deming-Halverson, Peter Devilee, Isabel Dos-Santos-Silva, Thilo Dörk, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, NBCS Collaborators

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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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.

Original language	English
Pages (from-to)	102769-102782
Number of pages	14
Journal	Oncotarget
Volume	8
Issue number	61
DOIs	https://doi.org/10.18632/oncotarget.21800
Publication status	Published - 28 Nov 2017

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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., Margolin, S., Du, Q., Lundin, J., Michailidou, K., Bolla, M. K., Wang, Q., ... NBCS Collaborators (2017). PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. Oncotarget, 8(61), 102769-102782. https://doi.org/10.18632/oncotarget.21800

@article{c695150020744826b200fa6c2ea49d50,

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 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.",

keywords = "Journal Article",

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 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 {NBCS Collaborators}",

year = "2017",

month = nov,

day = "28",

doi = "10.18632/oncotarget.21800",

language = "English",

volume = "8",

pages = "102769--102782",

journal = "Oncotarget",

issn = "1949-2553",

publisher = "Impact Journals",

number = "61",

}

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, Couch, FJ, Cox, A, Cross, SS, Deming-Halverson, SL, Devilee, P, Dos-Santos-Silva, I, Dörk, T, Eriksson, M, Fasching, PA, Figueroa, J & NBCS Collaborators 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.21800

TY - JOUR

T1 - PHIP - 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 - 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 - NBCS Collaborators

PY - 2017/11/28

Y1 - 2017/11/28

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 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.

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 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.

KW - Journal Article

U2 - 10.18632/oncotarget.21800

DO - 10.18632/oncotarget.21800

M3 - Article (Academic Journal)

C2 - 29262523

VL - 8

SP - 102769

EP - 102782

JO - Oncotarget

JF - Oncotarget

SN - 1949-2553

IS - 61

ER -

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

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