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

Authors:
Dieter Flesch-Janys
Dieter Flesch-Janys
United Kingdom
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 Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Qi Guo Melanie Gündert Christopher A Haiman Emily Hallberg Ute Hamann Patricia Harrington Maartje J Hooning John L Hopper Guanmengqian Huang Anna Jakubowska Michael E Jones Michael J Kerin Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jan Lubinski Arto Mannermaa John W M Martens Alfons Meindl Roger L Milne Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Julian Peto Katri Pylkäs Paolo Radice Valerie Rhenius Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Caroline Seynaeve Mitul Shah Jacques Simard Melissa C Southey Anthony J Swerdlow Thérèse Truong Camilla Wendt Robert Winqvist Wei Zheng Javier Benitez Alison M Dunning Paul D P Pharoah Douglas F Easton Kamila Czene Per Hall Annika Lindblom

Oncotarget 2017 Nov 12;8(61):102769-102782. Epub 2017 Oct 12.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Most non- 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 gene.

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Source
http://dx.doi.org/10.18632/oncotarget.21800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732689PMC
November 2017
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