Now showing items 24-42 of 42

• #### Genetic modifiers of CHEK2*1100delC associated breast cancer risk ﻿

(Nature Publishing Group, 2016)
Purpose CHEK2*1100delC is a founder variant in European populations conferring a 2-3 fold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC ...
• #### 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 ...
• #### Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk ﻿

(Oxford University Press, 2014-08-28)
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region ...
• #### Identification of four novel susceptibility loci for estrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome wide significant associations (P<5x10-8) with estrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer ...
• #### Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016-04-27)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10$^{−8}$) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated ...
• #### Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus ﻿

(BioMed Central, 2016)
Background Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method We performed a ...
• #### Identification of Novel Genetic Markers of Breast Cancer Survival ﻿

(Oxford Journals, 2015-04-18)
Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with ...
• #### Identification of six new susceptibility loci for invasive epithelial ovarian cancer ﻿

(2015-01-12)
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high ...
• #### An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression ﻿

(Oxford University Press, 2016-07-11)
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify ...
• #### No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing ﻿

(BMJ Group, 2016-02-26)
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and ...
• #### PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS ﻿

(BMJ Publishing Group, 2016-09-05)
Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are ...
• #### Patient survival and tumor characteristics associated with $\textit{CHEK2}$:p.I157T – findings from the Breast Cancer Association Consortium ﻿

(BioMed Central, 2016-10-03)
$\textbf{Background}$ P.I157T is a $\textit{CHEK2}$ missense mutation associated with a modest increase in breast cancer risk. Previously, another $\textit{CHEK2}$ mutation, the protein truncating c.1100delC has been ...
• #### Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium ﻿

(2016-10-03)
Abstract Background P.I157T is a CHEK2 missense mutation associated with a modest increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating ...
• #### Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium ﻿

(Wiley, 2014-12-04)
Breast cancer risk factors and clinical outcomes vary by tumor marker expression. However, individual studies often lack the power required to assess these relationships, and large-scale analyses are limited by the need ...
• #### Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression ﻿

(Elsevier, 2015-06-11)
Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association ...
• #### RAD51B in Familial Breast Cancer ﻿

(PLOS, 2016-05-05)
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ...