Results
author = "Kartsonaki, C"
1
Found 10 documents, displaying page 1 of 1
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Author(s) :
Maia, A.T.
,
Antoniou, A.C.
,
O'Reilly, M.
,
Samarajiwa, S.
,
Dunning, M.
,
Kartsonaki, C.
,
Chin, S.F.
,
Curtis, C.N.
,
McGuffog, L.
Description :
Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expre...
Repository :
Glasgow ePrints Service
Language(s) :
Undetermined
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Author(s) :
Im, KM
,
Kirchhoff, T
,
Wang, XS
,
Green, T
,
Chow, CY
,
Vijai, J
,
Korn, J
,
Gaudet, MM
,
Fredericksen, Z
,
Pankratz, VS
,
Guiducci, C
Description :
Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele freque...
Repository :
UCL Eprints
Language(s) :
Undetermined
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Author(s) :
Gaudet, MM
,
Kirchhoff, T
,
Green, T
,
Vijai, J
,
Korn, JM
,
Guiducci, C
,
Segre, AV
,
McGee, K
,
McGuffog, L
,
Kartsonaki, C
,
Morrison, J
Description :
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers...
Repository :
UCL Eprints
Language(s) :
Undetermined
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
Author(s) :
Antoniou, AC
,
Wang, XS
,
Fredericksen, ZS
,
McGuffog, L
,
Tarrell, R
,
Sinilnikova, OM
,
Healey, S
,
Morrison, J
,
Kartsonaki, C
Description :
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosi...
Repository :
UCL Eprints
Language(s) :
Undetermined
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers
Author(s) :
Ramus, SJ
,
Kartsonaki, C
,
Gayther, SA
,
Pharoah, PDP
,
Sinilnikova, OM
,
Beesley, J
,
Chen, XQ
,
McGuffog, L
,
Healey, S
,
Couch, FJ
Description :
Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A ...
Repository :
UCL Eprints
Language(s) :
Undetermined
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
Author(s) :
Gaudet, M.M.
,
Kirchhoff, T.
,
Green, T.
,
Vijai, J.
,
Korn, J.M.
,
Guiducci, C.
,
Segrè, A.V.
,
McGee, K.
,
McGuffog, L.
,
kartsonaki, C.
Description :
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers...
Repository :
RePub (Erasmus University Repository)
Language(s) :
English
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Author(s) :
Gaudet, M.M.
,
Kirchhoff, T.
,
Green, T.
,
Vijai, J.
,
Korn, J.M.
,
Guiducci, C.
,
Segre, A.V.
,
Mcgee, K.
,
McGuffog, L.
,
Kartsonaki, C.
Description :
Repository :
DSpace at Vrije Universiteit Amsterdam
Language(s) :
Undetermined
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Author(s) :
Im, K.M.
,
Kirchhoff, T.
,
Wang, X.S.
,
Green, T.
,
Chow, C.Y.
,
Vijai, J.
,
Korn, J.
,
Gaudet, M.M.
,
Fredericksen, Z.
,
Pankratz, V.S.
Description :
Repository :
DSpace at Vrije Universiteit Amsterdam
Language(s) :
Undetermined
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
Author(s) :
Ramus, S.J.
,
kartsonaki, C.
,
Gayther, S.A.
,
Pharoah, P.D.P.
,
Sinilnikova, O.
,
Beesley, J.
,
Chenevix-Trench, G.
,
McGuffog, L.
Description :
Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A ...
Repository :
RePub (Erasmus University Repository)
Language(s) :
English
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Author(s) :
Antoniou, A.C.
,
kartsonaki, C.
,
Sinilnikova, O.
,
Soucy, P.
,
McGuffog, L.
,
Healey, S.
,
Lee, A.
,
Peterlongo, P.
,
Manoukian, S.
Description :
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs112...
Repository :
RePub (Erasmus University Repository)
Language(s) :
English
1
Found 10 documents, displaying page 1 of 1