Results
author = "Greene, MH"
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study
Author(s) :
Rebbeck, TR
,
Antoniou, AC
,
Llopis, TC
,
Nevanlinna, H
,
Aittomaki, K
,
Simard, J
,
Spurdle, AB
,
Couch, FJ
,
Pereira, LHM
,
Greene, MH
Description :
Background The transforming growth factor beta-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P variant of TGFB1 is associated with higher circulating levels and secretion of TGF-beta, and recent large-scale studies suggest strongly that this variant is associated w...
Repository :
UCL Eprints
Language(s) :
Undetermined
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
Author(s) :
Bolton, KL
,
Chenevix-Trench, G
,
Goh, C
,
Sadetzki, S
,
Ramus, SJ
,
Karlan, BY
,
Lambrechts, D
,
Despierre, E
,
Barrowdale, D
Description :
Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2-related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear.
Repository :
UCL Eprints
Language(s) :
English
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
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Author(s) :
Mavaddat, N
,
Barrowdale, D
,
Andrulis, IL
,
Domchek, SM
,
Eccles, D
,
Nevanlinna, H
,
Ramus, SJ
,
Spurdle, A
,
Robson, M
,
Sherman, M
Description :
Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.
Repository :
UCL Eprints
Language(s) :
English
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Author(s) :
Mulligan, AM
,
Couch, FJ
,
Barrowdale, D
,
Domchek, SM
,
Eccles, D
,
Nevanlinna, H
,
Ramus, SJ
,
Robson, M
,
Sherman, M
,
Spurdle, AB
Description :
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 mutati...
Repository :
UCL Eprints
Language(s) :
English
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Author(s) :
Ramus, SJ
,
Antoniou, AC
,
Kuchenbaecker, KB
,
Soucy, P
,
Beesley, J
,
Chen, X
,
McGuffog, L
,
Sinilnikova, OM
,
Healey, S
,
Barrowdale, D
Description :
Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ...
Repository :
UCL Eprints
Language(s) :
English
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Author(s) :
Couch, FJ
,
Gaudet, MM
,
Antoniou, AC
,
Ramus, SJ
,
Kuchenbaecker, KB
,
Soucy, P
,
Beesley, J
,
Chen, X
,
Wang, X
,
Kirchhoff, T
Description :
Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutati...
Repository :
UCL Eprints
Language(s) :
English
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
Author(s) :
Ding, YC
,
McGuffog, L
,
Healey, S
,
Friedman, E
,
Laitman, Y
,
Paluch-Shimon, S
,
Kaufman, B
,
SWE-BRCA,
,
Liljegren, A
,
Lindblom, A
Description :
We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with b...
Repository :
UCL Eprints
Language(s) :
English
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