Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Anna Marie Mulligan
  • Fergus J Couch
  • Daniel Barrowdale
  • Susan M Domchek
  • Diana Eccles
  • Heli Nevanlinna
  • Susan J Ramus
  • Mark Robson
  • Mark Sherman
  • Amanda B Spurdle
  • Barbara Wappenschmidt
  • Andrew Roger Lee
  • Lesley McGuffog
  • Sue Healey
  • Olga M Sinilnikova
  • Ramunas Janavicius
  • Thomas V O Hansen
  • Bent Ejlertsen
  • Ana Osorio
  • Ivan Munoz-Repeto
  • Mercedes Duran
  • Javier Godino
  • Maroulio Pertesi
  • Javier Benitez
  • Paolo Peterlongo
  • Siranoush Manoukian
  • Bernard Peissel
  • Daniela Zaffaroni
  • Elisa Cattaneo
  • Bernardo Bonanni
  • Alessandra Viel
  • Barbara Pasini
  • Laura Papi
  • Laura Ottini
  • Antonella Savarese
  • Loris Bernard
  • Paolo Radice
  • Ute Hamann
  • Martijn Verheus
  • Hanne Ej Meijers-Heijboer
  • Juul Wijnen
  • Encarna B Gomez Garcia
  • Marcel R Nelen
  • C Marleen Kets
  • Caroline Seynaeve
  • Madeleine Ma Tilanus-Linthorst
  • Rob B van der Luijt
  • Theo van Os
  • Matti Rookus
  • Debra Frost
  • J Louise Jones
  • D Gareth Evans
  • Fiona Lalloo
  • Ros Eeles
  • Louise Izatt
  • Julian Adlard
  • Rosemarie Davidson
  • Jackie Cook
  • Alan Donaldson
  • Huw Dorkins
  • Helen Gregory
  • Jacqueline Eason
  • Catherine Houghton
  • Julian Barwell
  • Lucy E Side
  • Emma McCann
  • Alex Murray
  • Susan Peock
  • Andrew Godwin
  • Rita K Schmutzler
  • Kerstin Rhiem
  • Christoph Engel
  • Alfons Meindl
  • Ina Ruehl
  • Norbert Arnold
  • Dieter Niederacher
  • Christian Sutter
  • Helmut Deissler
  • Dorothea Gadzicki
  • Karin Kast
  • Sabine Preisler-Adams
  • Raymonda Varon-Mateeva
  • Ines Schoenbuchner
  • Britta Fiebig
  • Wolfram Heinritz
  • Dieter Schafer
  • Heidrun Gevensleben
  • Virginie Caux-Moncoutier
  • Marion Fassy-Colcombet
  • Francois Cornelis
  • Sylvie Mazoyer
  • Melanie Leone
  • Nadia Boutry-Kryza
  • Agnes Hardouin
  • Pascaline Berthet
  • Daniele Muller
  • Jean-Pierre Fricker
  • Isabelle Mortemousque
  • Pascal Pujol
  • Isabelle Coupier
  • Marine Lebrun
  • Caroline Kientz
  • Michel Longy
  • Nicolas Sevenet
  • Dominique Stoppa-Lyonnet
  • Claudine Isaacs
  • Trinidad Caldes
  • Miguel de Al Hoya
  • Tuomas Heikkinen
  • Kristiina Aittomaki
  • Ignacio Blanco
  • Conxi Lazaro
  • Rosa B Barkardottir
  • Penny Soucy
  • Martine Dumont
  • Jacques Simard
  • Marco Montagna
  • Silvia Tognazzo
  • Emma D'Andrea
  • Stephen Fox
  • Max Yan
  • Timothy R Rebbeck
  • Olufunmilayo I Olopade
  • Jeffrey N Weitzel
  • Henry T Lynch
  • Patricia A Ganz
  • Gail E Tomlinson
  • Xianshu Wang
  • Zachary Fredericksen
  • Vernon S Pankratz
  • Noralane M Lindor
  • Csila Szabo
  • Kenneth Offit
  • Rita Sakr
  • Mia Gaudet
  • Jasmine Bhatia
  • Noah Kauff
  • Christian F Singer
  • Muy-Kheng Tea
  • Daphne Gschwantler-Kaulich
  • Anneliese Fink-Retter
  • Phuong L Mai
  • Mark H Greene
  • Evgeny Imyanitov
  • Frances P O'Malley
  • Hilmi Ozcelik
  • Gordon Glendon
  • Amanda E Toland
  • Mads Thomassen
  • Torben A Kruse
  • Uffe Birk Jensen
  • Anne-Bine Skytte
  • Maria A Caligo
  • Maria Soller
  • Karin Henriksson
  • Anna von Wachenfeldt
  • Brita Arver
  • Marie Stenmark-Askmalm
  • Per W. Karlsson
  • Yuan Chun Ding
  • Susan L Neuhausen
  • Mary Beattie
  • Paul Dp Pharoah
  • Kirsten B Moysich
  • Katherine L Nathanson
  • Beth Y Karlan
  • Jenny Gross
  • Esther M John
  • Mary B Daly
  • Saundra M Buys
  • Melissa C Southey
  • John L Hopper
  • Mary Beth Terry
  • Wendy Chung
  • Alexander F Miron
  • David Goldgar
  • Georgia Chenevix-Trench
  • Douglas F Easton
  • Irene L Andrulis
  • Antonis C Antoniou
  • Breast Cancer Family Registry
  • Embrace
  • Gemo Study Collaborators
  • Hebon
  • Ontario Cancer Genetics Network
  • Swe-Brca
  • Cimba
ABSTRACT: INTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumor. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumor, to assess the associations of twelve loci with breast cancer tumor characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for eleven loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, SNP rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele HR for ER-positive=1.35, 95%CI:1.17-1.56 vs HR=0.91, 95%CI:0.85-0.98 for ER-negative, P-heterogeneity=6.5e-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. CONCLUSIONS: The associations of the twelve SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumor subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
OriginalsprogEngelsk
TidsskriftBreast Cancer Research (Online Edition)
Vol/bind13
Udgave nummer6
Sider (fra-til)R110
ISSN1465-5411
DOI
StatusUdgivet - 2011

ID: 40154505