Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
;
Miriam Dwek;
Diana M Eccles;
A Heather Eliassen;
Peter A Fasching;
Jonine Figueroa;
Henrik Flyger;
Lin Fritschi;
Manuela Gago-Dominguez;
Susan M Gapstur;
Montserrat García-Closas;
José A García-Sáenz;
Mia M Gaudet;
Graham G Giles;
Mark S Goldberg;
David E Goldgar;
Pascal Guénel;
Christopher A Haiman;
Niclas Håkansson;
Per Hall;
Patricia A Harrington;
Steven N Hart;
Mikael Hartman;
Peter Hillemanns;
John L Hopper;
Ming-Feng Hou;
David J Hunter;
Dezheng Huo;
ABCTB Investigators;
Hidemi Ito;
Motoki Iwasaki;
Milena Jakimovska;
Anna Jakubowska;
Esther M John;
Rudolf Kaaks;
Daehee Kang;
Renske Keeman;
Elza Khusnutdinova;
Sung-Won Kim;
Peter Kraft;
Vessela N Kristensen;
Allison W Kurian;
Loic Le Marchand;
Jingmei Li;
Annika Lindblom;
Artitaya Lophatananon;
Robert N Luben;
Jan Lubiński;
Arto Mannermaa;
Mehdi Manoochehri;
Siranoush Manoukian;
Sara Margolin;
Shivaani Mariapun;
Keitaro Matsuo;
Tabea Maurer;
Dimitrios Mavroudis;
Alfons Meindl;
Usha Menon;
Roger L Milne;
Kenneth Muir;
Anna Marie Mulligan;
Susan L Neuhausen;
Heli Nevanlinna;
Kenneth Offit;
Olufunmilayo I Olopade;
Janet E Olson;
Håkan Olsson;
Nick Orr;
Sue K Park;
Paolo Peterlongo;
Julian Peto ;
Dijana Plaseska-Karanfilska;
Nadege Presneau;
Brigitte Rack;
Rohini Rau-Murthy;
Gad Rennert;
Hedy S Rennert;
Valerie Rhenius;
Atocha Romero;
Matthias Ruebner;
Emmanouil Saloustros;
Rita K Schmutzler;
Andreas Schneeweiss;
Christopher Scott;
Mitul Shah;
Chen-Yang Shen;
Xiao-Ou Shu;
Jacques Simard;
Christof Sohn;
Melissa C Southey;
John J Spinelli;
Rulla M Tamimi;
William J Tapper;
Soo H Teo;
Mary Beth Terry;
Diana Torres;
Thérèse Truong;
Michael Untch;
Celine M Vachon;
Christi J van Asperen;
Alicja Wolk;
Taiki Yamaji;
Wei Zheng;
Argyrios Ziogas;
Elad Ziv;
Gabriela Torres-Mejía;
Thilo Dörk;
Anthony J Swerdlow;
Ute Hamann;
Marjanka K Schmidt;
Alison M Dunning;
Paul DP Pharoah;
Douglas F Easton;
Maartje J Hooning;
John WM Martens;
Antoinette Hollestelle;
(2020)
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
SCIENTIFIC REPORTS, 10 (1).
9688-.
ISSN 2045-2322
DOI: 10.1038/s41598-020-65665-y
In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859-1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482-1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.
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