Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Show full item record



Permalink

http://hdl.handle.net/10138/169028

Citation

Lawrenson , K , Kar , S , McCue , K , Kuchenbaeker , K , Michailidou , K , Tyrer , J , Beesley , J , Ramus , S J , Li , Q , Delgado , M K , Lee , J M , Aittomäki , K , Andrulis , I L , Anton-Culver , H , Arndt , V , Arun , B K , Arver , B , Bandera , E V , Barile , M , Barkardottir , R B , Barrowdale , D , Beckmann , M W , Benitez , J , Berchuck , A , Bisogna , M , Bjorge , L , Blomqvist , C , Blot , W , Bogdanova , N , Bojesen , A , Bojesen , S E , Bolla , M K , Bonanni , B , Borresen-Dale , A-L , Brauch , H , Brennan , P , Brenner , H , Bruinsma , F , Brunet , J , Buhari , S A , Burwinkel , B , Butzow , R , Buys , S S , Cai , Q , Caldes , T , Campbell , I , Canniotto , R , Chang-Claude , J , Khan , S , Nevanlinna , H , GEMO Study Collaborators , EMBRACE , Hereditary Breast & Ovarian Canc R , KConFab Investigators & Australian Ovarian Canc Study Grp 2016 , ' Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus ' Nature Communications , vol. 7 , 12675 . DOI: 10.1038/ncomms12675

Title: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Author: Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J.; Li, Qiyuan; Delgado, Melissa K.; Lee, Janet M.; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bandera, Elisa V.; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Matthias W.; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S.; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Canniotto, Rikki; Chang-Claude, Jenny; Khan, Sofia; Nevanlinna, Heli; GEMO Study Collaborators; EMBRACE; Hereditary Breast & Ovarian Canc R; KConFab Investigators; Australian Ovarian Canc Study Grp
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Oncology
University of Helsinki, Department of Pathology
University of Helsinki, Department of Obstetrics and Gynegology
University of Helsinki, Department of Obstetrics and Gynegology
Date: 2016-09
Language: eng
Number of pages: 22
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/169028
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P = 9.2 x 10(-20)), ER-negative BC (P = 1.1 x 10(-13)), BRCA1-associated BC (P = 7.7 x 10(-16)) and triple negative BC (P-diff = 2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P = 2 x 10(-3)) and ABHD8 (P
Subject: GENOME-WIDE ASSOCIATION
BRCA2 MUTATION CARRIERS
EPITHELIAL-CELLS
COMMON VARIANTS
IDENTIFIES 3
MODIFIERS
REVEALS
GWAS
GENE
INVESTIGATORS
3122 Cancers
3123 Gynaecology and paediatrics
3111 Biomedicine
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
ncomms12675.pdf 1.509Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record