Now showing items 9-28 of 42

• #### Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 ﻿

(Nature Publishing Group, 2016)
We analysed 3872 common genetic variants across the ESR1 locus (encoding estrogen receptor–alpha) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, ...
• #### Combined effects of single nucleotide polymorphisms TP53R72P and MDM2SNP309, and p53 expression on survival of breast cancer patients ﻿

(2009-12-18)
Abstract Introduction Somatic inactivation of the TP53 gene in breast tumors is a marker for poor outcome, and breast cancer outcome might also be affected by germ-line variation in the TP53 gene or its regulators. We ...
• #### 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. ﻿

(2011-11-02)
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 ...
• #### Common non-synonymous SNPs associated with breast cancer susceptibility: ﬁndings from the Breast Cancer Association Consortium ﻿

(Oxford University Press, 2014-07-04)
Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude ...
• #### Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers ﻿

(2012-04-18)
Abstract 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 ...
• #### Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers ﻿

(2010-11-29)
Abstract Introduction Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide ...
• #### Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation ﻿

(NPG, 2014-09-23)
GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping ...
• #### Evidence that the 5p12 variant rs10941679 confers susceptibility to estrogen receptor positive breast cancer through FGF10 and MRPS30 regulation ﻿

(Elsevier (Cell Press), 2016)
Genome-wide association studies (GWAS) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine-mapping of this locus using data from 104,660 subjects from 50 ...
• #### Exploring the link between MORF4L1 and risk of breast cancer ﻿

(2011-04-05)
Abstract Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its ...
• #### Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 ﻿

(Cell/Elsevier, 18/12/2014)
Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
• #### Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. ﻿

(2015-12-18)
• #### Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus ﻿

(Public Library of Science, 2016-08-24)
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
• #### Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers ﻿

(Public Library of Science, 2016-07-27)
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ mutation ...
• #### Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer ﻿

(Wiley, 2016)
Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ...
• #### Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast-Ovarian Cancer Susceptibility Locus ﻿

(Nature Publishing Group, 2016)
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. We analyzed 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identified ...
• #### Genetic modifiers of CHEK2*1100delC-associated breast cancer risk ﻿

(Nature Publishing Group, 2016-10-06)
Purpose: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ...
• #### Genetic variation in the immunosuppression pathway genes and breast cancer: a pooled analysis of 42,510 cases and 40,577 controls from the Breast ﻿

(Springer, 2015-11-30)
Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in ...
• #### Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent ﻿

(Public Library of Science, 2016-08-23)
$\textbf{Background}$ Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal ...
• #### Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. ﻿

(NPG, 2015-03-09)
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
• #### Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types ﻿

(American Association for Cancer Research, 2016-07-17)
Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest ...