Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Breast Cancer Research : BCR
Antonis C AntonioukConFab Investigators

Abstract

Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; r...Continue Reading

References

Jan 1, 1988·Genetic Epidemiology·K LangeM Boehnke
Apr 29, 1998·American Journal of Human Genetics·S MazoyerG M Lenoir
Apr 16, 2005·Critical Reviews in Eukaryotic Gene Expression·Farrokh Asadi, Subhash Kukreja
Feb 3, 2006·Cancer Research·Gillian MitchellDouglas F Easton
Jul 13, 2007·The New England Journal of Medicine·Gad RennertSteven A Narod
Nov 14, 2007·American Journal of Human Genetics·Antonis C AntoniouUNKNOWN Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Jan 10, 2008·JAMA : the Journal of the American Medical Association·Colin B BeggJonine L Bernstein
Mar 22, 2008·American Journal of Human Genetics·Antonis C AntoniouUNKNOWN CIMBA
Aug 7, 2009·Human Molecular Genetics·Antonis C AntoniouUNKNOWN CIMBA
Apr 20, 2010·Current Opinion in Genetics & Development·Antonis C Antoniou, Georgia Chenevix-Trench
May 11, 2010·Nature Genetics·Clare TurnbullDouglas F Easton
Sep 21, 2010·Nature Genetics·Kelly L BoltonSimon A Gayther
Oct 28, 2010·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Christoph EngelUNKNOWN Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Dec 21, 2010·Journal of the National Cancer Institute·Susan J RamusUNKNOWN Consortium of Investigators of Modifiers of BRCA1/2
Jan 26, 2011·Journal of the National Cancer Institute·Olivia FletcherJulian Peto
Feb 10, 2011·Annals of Oncology : Official Journal of the European Society for Medical Oncology·R L Milne, A C Antoniou
Aug 17, 2011·Cancer Research·Kristen N StevensFergus J Couch
Sep 6, 2011·Human Molecular Genetics·David G CoxUNKNOWN Consortium of Investigators of Modifiers of BRCA1/2
Jan 24, 2012·Nature Genetics·Maya GhoussainiDouglas F Easton

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Citations

Sep 27, 2012·Breast Cancer Research and Treatment·Kristen N StevensFergus J Couch
May 1, 2013·Journal of the National Cancer Institute·Nasim MavaddatUNKNOWN EMBRACE
Dec 24, 2013·Breast Cancer Research : BCR·Kara N Maxwell, Katherine L Nathanson
Oct 25, 2013·Journal of Human Genetics·Brunella PilatoStefania Tommasi
May 16, 2014·Journal of the National Cancer Institute·Tara M FriebelTimothy R Rebbeck
Jan 14, 2016·BMC Cancer·Olga M SinilnikovaNadine Andrieu
Jun 16, 2015·American Journal of Human Genetics·Hatef DarabiGeorgia Chenevix-Trench
Jun 27, 2013·The Breast Journal·Henry LynchSan Ming Wang
Jan 23, 2015·International Journal of Cancer. Journal International Du Cancer·Myrto BarrdahlDaniele Campa
Jul 22, 2015·Breast Cancer Research and Treatment·Boyoung ParkSue K Park
Jul 16, 2015·International Journal of Epidemiology·Mary Beth TerryJohn L Hopper
Jun 14, 2015·Breast Cancer Research : BCR·Daniele CampaRudolf Kaaks
Mar 16, 2013·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Janet R VosJan C Oosterwijk
Dec 6, 2014·Breast Cancer Research and Treatment·Terri Patricia McVeighNicola Miller
Apr 28, 2016·Nature Communications·Fergus J CouchAntonis C Antoniou
Aug 17, 2016·Endocrine-related Cancer·Roger L Milne, Antonis C Antoniou
Oct 12, 2016·Molecular and Cellular Probes·Susanne Stemmler, Sabine Hoffjan
Oct 31, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Jennifer K Litton, Ana Maria Gonzalez-Angulo
Mar 10, 2017·Journal of Clinical Laboratory Analysis·Soodabeh ShahidSalesAmir Avan
Dec 15, 2017·Journal of Cellular Physiology·Mahdi RivandiAmir Avan
Oct 27, 2018·Journal of Cellular Biochemistry·Amirreza HesariFaezeh Ghasemi
Jan 27, 2018·Hereditary Cancer in Clinical Practice·Mev Dominguez-ValentinEivind Hovig
Feb 21, 2018·BMC Medical Genetics·Mev Dominguez-ValentinEivind Hovig
Jun 2, 2016·American Society of Clinical Oncology Educational Book·Allison W KurianSusan M Domchek
Jun 6, 2017·The New England Journal of Medicine·Mark RobsonPierfranco Conte
Apr 13, 2018·Current Treatment Options in Oncology·Alexandra S ZimmerJung-Min Lee
Jul 8, 2020·International Journal of Molecular Sciences·Shaymaa AzawiMattia Manferrari
Jun 19, 2013·Cancer Discovery·Yuqing ZhangJi-Hye Paik
Jun 15, 2013·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Efrat KravitzEitan Friedman
Dec 6, 2014·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Heather M Ochs-BalcomRobert C Elston
Nov 29, 2013·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·D Gareth R EvansFiona Lalloo

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Methods Mentioned

BETA
genotyping
bilateral oophorectomy

Software Mentioned

MENDEL
CIMBA

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