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, Henrik Flyger, NBCS Collaborators

6 Citationer (Scopus)


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.

Udgave nummer61
Sider (fra-til)102769-102782
Antal sider14
StatusUdgivet - 28 nov. 2017


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