Now showing items 1-20 of 44

• #### A genome-wide association scan on estrogen receptor -negative breast cancer ﻿

(2010-11-09)
Abstract Introduction Breast cancer is a heterogeneous disease and may be characterized on the basis of whether estrogen receptors (ER) are expressed in the tumour cells. ER status of breast cancer is important clinically, ...
• #### A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients ﻿

(2015-12-16)
Abstract Background Personalized therapy considering clinical and genetic patient characteristics will further improve breast cancer survival. Two widely used treatments, ...
• #### Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers ﻿

(American Society of Clinical Oncology, 2016)
CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast ...
• #### Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis ﻿

(2015-07-02)
Abstract Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the ...
• #### Annexin A1 expression in breast cancer: tumor subtypes and prognosis ﻿

(BioMed Central, 2015-06-25)
Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of ...
• #### Assessing the genetic architecture of epithelial ovarian cancer histological subtypes ﻿

(Springer, 2016-04-13)
Epithelial ovarian cancer (EOC) is one of the deadliest common cancers. The five most common types of disease are high-grade and low-grade serous, endometrioid, mucinous and clear cell carcinoma. Each of these subtypes ...
• #### Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. ﻿

(Springer, 2017-01)
$\textit{Purpose}$ $\textit{Cis}$-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate ...
• #### Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry ﻿

(Springer, 2016-04-06)
Purpose Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. Methods We constructed a ...
• #### Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers ﻿

(BioMed Central, 2014-12-31)
Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are ...
• #### BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. ﻿

(American Association for Cancer Research, 2017-06)
Breast cancer risks conferred by many germline missense variants in the $\textit{BRCA1}$ and $\textit{BRCA2}$ genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, ...
• #### 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 ...